23 research outputs found
Bicruciate-retaining total knee arthroplasty: What's new?
- Author
- Publication venue
- Publication date
- 01/01/2021
- Field of study
Primary total knee arthroplasty (TKA) is a widespread procedure to address end stage osteoarthritis with good results, clinical outcomes, and long-term survivorship. Although it is frequently performed in elderly, an increased demand in young and active people is expected in the next years. However, a considerable dissatisfaction rate has been reported by highly demanding patients due to the intrinsic limitations provided by the TKA. Bicruciate-retaining (BCR) TKA was developed to mimic knee biomechanics, through anterior cruciate ligament preservation. First-generation BCR TKA has not gained popularity due to its being a challenging technique and having poor survival outcomes. Thanks to implant design improvement and surgeon-friendly instrumentation, second-generation BCR TKA has seen renewed interest. This review will focus on surgical indications, kinematical basis, clinical results and latest developments of second-generation BCR TKA
Kt-Factorization vs. Renormalization Group: A small-x Consistency Argument
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 07/06/1995
- Field of study
The consistency of the BFKL equation with the renormalization group is
investigated at next-to-leading log-x level.By use of Kt-factorization, it is
found that,besides next-to-leading small-x resummation formulae, a leading,
x-dependent redefinition of initial quarks and gluons is needed. Its
interpretation and phenomenological relevance are discussed.Comment: front page,7 pages, 1 figur
Minimally invasive reduction of vertically displaced sacral fracture without use of traction table
- Author
- Publication venue
- Springer Milan
- Publication date
- 01/01/2011
- Field of study
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
- Author
- Abbott Kristin M.
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bijlsma Emilia K.
- Bonne Gisèle
- Bourbouli Mara
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Cali Elisa
- Capella Gabriel
- Carneiro Fátima
- Carpancea Evelina
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Colobran Roger
- consortium Solve-R. D.
- Cordts Isabelle
- Corominas Galbany Jordi
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso García
- De Ridder Willem
- de Sainte Agathe Jean-Madeleine
- de Voer Richarda M.
- de Vries Geert
- De Winter Jonathan
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Dizjikan Farid Yavari
- Doležalová Pavla
- Drunat Séverine
- Duerinckx Sarah
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Fallerini Chiara
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Frederikse Wilhemina Skerstjens
- Freeberg Mallory
- Furini Simone
- Gao Fei
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Gilissen Christian
- Graessner Holm
- Grimbacher Bodo
- Gualandi Francesca
- Guerrini Renzo
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hampstead Juliet
- Hanauer Marc
- Hanna Mike
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández Carles
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoen Peter A. C. T
- Hoffer Mariette J. V.
- Hofste Tom
- Hoischen Alexander
- Hoischen Alexander
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Houlden Henry
- Iacomino Michele
- Jackson Adam
- Janssen Erik
- Jarava Clara Franco
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kessler Christoph
- Kleefstra Tjitske
- Kokosali Evgenia
- Kremliková Radka Pourová
- Kucuk Erdi
- Köhler Sebastian
- Lacombe Didier
- Lagorce David
- Lambros Mathioudakis
- Laner Andreas
- Laurie Steven
- Lebreton Emeline
- Lederer Damien
- Lerche Holger
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Martín Estrella López
- Mary Sandrine
- Masó Laura Batlle
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molnar Maria Judit
- Morleo Manuela
- Morsy Heba
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau Alexander
- Neerincx Pieter B.
- Nelen Marcel
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Pfundt Rolph
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Poppe Bruce
- Pélissier Aurore
- Pérez-Dueñas Belén
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rinne Tuula
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Roos Andreas
- Rossi Rachele
- Ruivenkamp Claudia A. L.
- Rump Andreas
- Ruvolo David
- Sablauskas Karolis
- Santen Gijs W. E.
- Sarkozy Anna
- Savarese Marco
- Scala Marcello
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schöls Ludger
- Schüle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Traschütz Andreas
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- van Os Nienke
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Vetro Annalisa
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wilke Carlo
- Xu Jishu
- Yaldiz Burcu
- Yaldiz Burcu
- Yaou Rabah Ben
- Yntema Helger G.
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2023
- Field of study
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
- Abbott Kristin M.
- Abbott Kristin M.
- Afenjar Alexandra
- Agathe Jean-Madeleine de Sainte
- Agathe Jean-Madeleine de Sainte
- Albuisson Juliette
- Alembik Yves
- Alessandri Jean-Luc
- Alexander Elizabeth
- Allamand Valérie
- Alonso García de la Rosa F. Javier
- Amiel Jeanne
- Amram Daniel
- Aretz Stefan
- Atalaia Antonio
- Attie-Bitach Tania
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Banka Siddharth
- Baujat Geneviève
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Bellanger Séverine Audebert
- Beltran Sergi
- Ben Yaou Rabah
- Benetti Elisa
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bitoun Pierre
- Bizaoui Varoona
- Blesson Sophie
- Boer Elke de
- Bongers Ernie
- Bonne Gisèle
- Bonnet-Dupeyron Marie Noëlle
- Bonniaud Bertille
- Bourbouli Mara
- Bournez Marie
- Boute Odile
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Busa Tiffany
- Cali Elisa
- Capella Gabriel
- Capri Yline
- Carneiro Fátima
- Carpancea Evelina
- Cartault François
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chassaing Nicolas
- Chiaverini Christine
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Ciolfi Andrea
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Cohen Enzo
- Colin Estelle
- Colobran Roger
- Colson Cindy
- Cordier-Alex Marie-Pierre
- Cordts Isabell
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Coubes Christine
- Cusin Véronica
- Dallapiccola Bruno
- Dallapiccola Bruno
- Dallapiccola Bruno
- Danis Daniel
- Danis Daniel
- Davoine Claire-Sophie
- de Boer Elke
- de Boer Elke
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- De Ridder Willem
- de Voer Richarda M.
- de Vries Bert B.A.
- de Vries Geert
- De Winter Jonathan
- Delanne Julian
- Delgado Beatriz Martínez
- Demeer Bénédicte
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Desplantes Claire
- Diene Gwenaëlle
- Dieux-Coeslier Anne
- Dizjikan Farid Yavari
- Doco-Fenzy Martine
- Doležalová Pavla
- Doray Bérénice
- Drouin-Garraud Valérie
- Drunat Séverine
- Duerinckx Sarah
- Duffourd Yannis
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- El Chehadeh Salima
- Ellwanger Kornelia
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Faivre Laurence
- Fallerini Chiara
- Fallerini Chiara
- Fargeot Anne
- Feillet François
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Fradin Mélanie
- Francannet Christine
- Franková Vera
- Freeberg Mallory
- Furini Simone
- Gaillard Dominique
- Gao Fei
- Gao Fei
- Garrido Luzia
- Geneviève David
- Gibson Spencer
- Gilbert-Dussardier Brigitte
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Giuliano Fabienne
- Goizet Cyril
- Goldenberg Alice
- Graessner Holm
- Graessner Holm
- Grimbacher Bodo
- Grotto Sarah
- Gualandi Francesca
- Guerrini Renzo
- Guerrot Anne-Marie
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Gérard-Blanluet Marion
- Haack Tobias B.
- Haack Tobias B.
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hanauer Marc
- Hanna Mike
- Hanna Nadine
- Havlovicova Marketa
- Havlovicova Marketa
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández Carles
- Heron Delphine
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Hoischen Alexander
- Holder-Espinasse Muriel H.
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houcinat Nada
- Houlden Henry
- Iacomino Michele
- Isidor Bertrand
- Jackson Adam
- Jackson Adam
- Jackson Adam
- Jacquemin Emmanuel
- Jacquemont Marie-Line
- Janssen Erik
- Jarava Clara Franco
- Jean-Marçais Nolwenn
- Johanson Lennart
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- José Celina São
- Jouk Pierre-Simon
- Jouret Béatrice
- Journel Hubert
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kerstjens Frederikse Wilhemina S.
- Kerstjens Mieke
- Kessler Christoph
- Kilic Esra
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kokosali Evgenia
- Kremliková Radka Pourová
- Köhler Sebastian
- Lacaze Elodie
- Lacombe Didier
- Lacombe Didier
- Laffargue Fanny
- Lagorce David
- Lambert Laëtitia
- Lambros Mathioudakis
- Laner Andreas
- Laudier Béatrice
- Laurie Steven
- Layet Valérie
- Lebreton Emeline
- Lederer Damien
- Lederer Damien
- Lehalle Daphné
- Leheup Bruno
- Leperrier Nathalie
- Lerche Holger
- Lespinasse James
- Li Shuang
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lyonnet Stanislas
- López-Martín Estrella
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Marlin Sandrine
- Martinovic Jelena
- Martín Estrella López
- Martín Estrella López
- Mary Sandrine
- Masurel Alice
- Masó Laura Batlle
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Mathieu Michèle
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Maystadt Isabelle
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Mencarelli Maria Antonietta
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molin Arnaud
- Molnar Maria Judit
- Morice-Picard Fanny
- Morin Gilles
- Morleo Manuela
- Morleo Manuela
- Morsy Heba
- Morsy Heba
- Moutton Sébastien
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau Alexander
- Nambot Sophie
- Natera de Benito Daniel
- Naudion Sophie
- Neerincx Pieter B.
- Neiva Cecilia
- Nelson Isabelle
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Odent Sylvie
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Ousager Lilian Bomme
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
- Parent Philippe
- Parkinson Helen
- Paske Iris te
- Passemard Sandrine
- Patch Christine
- Paul Carle
- Pauly Martje
- Pelaez Jose Garcia
- Perrin Laurence
- Perthus Isabelle
- Peterlin Borut
- Peters Sophia
- Petit Florence
- Peyron Christine
- Pfundt Rolph
- Phan Alice
- Philip Nicole
- Philippe Christophe
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Pinelli Michele
- Pinson Lucile
- Piscia Davide
- Pizzi Simone
- Pizzi Simone
- Pizzi Simone
- Poirsier Céline
- Polavarapu Kiran
- Poppe Bruce
- Posada Manuel
- Posada Manuel
- Prieur Fabienne
- Putoux Audrey
- Pélissier Aurore
- Pérez-Dueñas Belén
- Quélin Chloé
- Radio Francesca C.
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renaud Mathilde
- Renieri Alessandra
- Renieri Alessandra
- Renieri Alessandra
- Reversade Bruno
- Riaz Umar
- Riess Olaf
- Riess Olaf
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Rooryck Caroline
- Rooryck Caroline
- Roos Andreas
- Rossi Massimiliano
- Rossi Rachele
- Ruaud Lyse
- Ruivenkamp Claudia A.L.
- Rump Andreas
- Ruvolo David
- Ryba Lukas
- Ryba Lukas
- Sablauskas Karolis
- Safraou Hana
- Samimi Mahtab
- Sanlaville Damien
- Santen Gijs W.E.
- Sarda Pierre
- Sarkozy Anna
- Sarrazin Elisabeth
- Savarese Marco
- Savarese Marco
- Scala Marcello
- Schaefer Élise
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schwarz Martin
- Schöls Ludger
- Schüle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Sorlin Arthur
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Spodenkiewicz Marta
- Steehouwer Marloes
- Steichen Elisabeth
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez Eva Bermejo
- Tartaglia Marco
- Tartaglia Marco
- Tartaglia Marco
- te Paske Iris B.A.W.
- Thauvin Christel
- Thauvin Christel
- Thauvin-Robinet Christel
- Thevenon Julien
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Torella Annalaura
- Touraine Renaud
- Toutain Annick
- Tran Mau-Them Frédéric
- Traschütz Andreas
- Trimouille Aurelien
- Trimouille Aurélien
- Trimouille Aurélien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Vabres Pierre
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- Van Kien Philippe Khau
- Van Maldergem Lionel
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Verloes Alain
- Verloes Alain
- Vetro Annalisa
- Vincent Marie
- Vincent-Delorme Catherine
- Vissers Lisenka
- Vissers Lisenka E.L.M.
- Vissers Lisenka E.L.M.
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Votypka Pavel
- W.E Gijs
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wells Constance
- Whalen Sandra
- Wilke Carlo
- Willems Marjolaine
- Willemsen Marjolein H.
- Xu Jishu
- Yaldiz Burcu
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zguro Kristina
- Zivi Einat
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Zurek Birte
- ‘t Hoen Peter A.C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2023
- Field of study
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries
- Author
- Abad-Motos Ane
- Abbas Ahmed M.
- Abbas Mostafa
- Abbasi Mujeeb
- Abbott Tom
- Abd Karim Muhammad Fairuz Shah
- Abdalaal Ibrahim
- Abdel-Galil Khalid
- Abdelemam Rania
- Abdelgawad Abdalrahman
- Abdelkarim Maryam
- Abdelkhalek Mohamed
- Abdelmageed Abdelfatah
- Abdelmawgoud Sherif
- Abdelmohsen Sarah
- Abdelrahman Ahmed Saber
- Abdelrahman Mostafa
- Abdelwahab Khaled
- Abdou Hossam
- Abdulai Darling Ramatu
- Abdulkhaleq Marwa
- Abdullah Bahiyah
- Abdulsalam Khalifa
- Abdulsalam Shuaib
- Abdur-Rahman Lukman
- Abdus-Salam Rukiyat
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- Demetriades Andreas K
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- Federer Simon
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- Glass Nina
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- Gmati Aimen
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- Hamid Hytham K. S.
- Hamida Baha Ben
- Hamill James
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- Lyra Humberto Fenner
- Mabood Waleed
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- Magnone Stefano
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- Maguire Patrick J.
- Mahečić Tina Tomić
- Mahmood Fahad
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- Mallmann Christoph
- Mallmann Michael R.
- Mambrilla Sara
- Manangi Mallikarjuna
- Manesh Hassan Fatemi
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- Mangi Ali
- Maniaci Antonino
- Manickavasagam Jaiganesh
- Manigrasso Michele
- Manjula S.
- Mannan Syed
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- Martinez-Perez Carolina
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- Martins Ana
- Martins Claudia Pinto
- Martins Paulo N.
- Martínez Daniel Fernández
- Martínez Eunate Ganuza
- Martínez Verónica Martín
- Martínez-Sánchez Marta Isabel
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- Massoud John
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- Materazzo Marco
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- Matos Leandro
- Matos Philomena Alice Wawer
- Matthews Emily
- Mauriello Claudio
- Maurus Christine
- Mayer Horacio F.
- Mayo-Yáñez Miguel
- Mazzarella Gennaro
- Mbodi Langanani
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- McAleer Stephen
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- McGrath John
- McKay Joseph
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- McLeish Bethan
- McPherson Duncan
- Meara John G.
- Meead Adullah
- Mehraj Asif
- Meilak Joseph
- Meleiro Hugo
- Melero Alba Vazquez
- Melo Miguel Rocha
- Memişoǧlu Ecem
- Memos Nikolaos
- Mendes Tome
- Mendiola Gian
- Mendoza-Moreno Fernando
- Meneghini Simona
- Mengesha Mengistu G.
- Menna Maria Paola
- Menon Arun
- Meola Antonio
- Merayo Marta
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- Mesli Smain Nabil
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- Meyer Jeremy
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- Migliore Marcello
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- Mittal Abhishek
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- Mittermair Christof
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- Moda Nupur
- Modabber Ali
- Modolo Maria Marta
- Mohamed Ahmed Mohamed Ibrahim
- Mohamed Guleed
- Mohamed Mazin
- Mohamedahmed Ali Yasen Y.
- Mohammed Alhassan Datti
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- Morgan Eghosa
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- Moro Alessandro
- Moro Ana María Gimeno
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- Mostafa Badr
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- Muhaisen Mo'Nes
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- Mushtaq Hassan
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- Mustafa Hamid
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- Mutter Didier
- Mvukiyehe Jean Paul
- Mwenda Aruyaru Stanley
- Myrelid Par
- Myriokefalitaki Eva
- Méndez Patricia Serrano
- Nabil Fatma
- Nachelleh Emmanuel Aadereyir
- Nacion Aeris Jane D.
- Nadi Khaldoun
- Naegele Felix
- Naga Hani
- Nagappa Mahesh
- Naggs Taryn
- Nah Shireen Anne
- Nahm Christopher
- Naimzada Mukhammad David
- Nakano Luis
- Nanjiani Deedar
- Nankivell Paul
- Naranjo Eddy P. Lincango
- Narayanan Vairavan
- Nardo Bruno
- Narvaez-Rojas Alexis Rafael
- Nassar Mahmoud A.
- Nasser Sara
- Nastos Constantinos
- Natale Joseph
- Nataraja Ramesh
- Nathan Arjun
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- Navarrete-Peón Alberto
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- Nazer Ahmed
- Nazimi Abd Jabar
- Ncogoza Isaie
- Neal-Smith Gregory
- Neary Colm
- Negoi Ionut
- Negussie Abraham
- Nemeth Marcus
- Nenna Antonio
- Nepogodiev Dmitri
- Nestor Claire
- Nevins Edward J.
- Newman Samuel
- Ngaserin Sabrina
- Nicholson Gary
- Niewiera Marc
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- Nitschke Christine
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- Noel Colin
- Nolte Peter
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- Novello Simone
- Novysedlák René
- Ntalouka Maria P.
- Ntirenganya Faustin
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- Nuñez Jorge
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- O'Connell Robert Michael
- O'Connor Alexander
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- O'Riordan James
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- Ofori Emmanuel Owusu
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- Oh Ke En
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- Oktseloglou Vlasios
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- Oladimeji Abraham
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- Olori Samson
- Olson Kristofor A.
- Oludara Mobolaji
- Omar David
- Omar Islam
- Omer Mohammed Eltahier Abdalla
- Ong Chon Sum
- Onyeagwara Ngozi
- Onyemaechi Ndubuisi
- Ooi Rucira
- Orecchia Luca
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- Orsoo Soyombo
- Ortega Eduardo Nieto
- Osborn Tamara
- Oshodi Yusuf
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- Otify Esraa
- Otokwala Job
- Oung Thida
- Oyinloye Oluwaseun
- Ozair Ahmad
- Ozkan Omer Faruk
- Ozmen Berk Baris
- Paal Peter
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- Pacheco Glenda Marina Falcon
- Pacilio Carlo Alberto
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- Page Richard
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- Panahi Pedram
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- Panduro-Correa Vicky
- Pang Tony
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- Paraskevas Kosmas I.
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- Petrucciani Niccolò
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- Pettigrove K.L.
- Phillips Jonathan
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- Pinkney Thomas
- Pinney L.
- Pinotti Enrico
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- Piozzi Guglielmo Niccolò
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- Pirozzi Brunella Maria
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- Pramesh C.S.
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- Prodromidou Anastasia
- Proud David
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- Prusty Lydia
- Pu Jingya Jane
- Pucher Philip
- Punjabi Prakash P
- Puri Ajay
- Purich Kieran
- Pérez Beatriz Gómez
- Pérez-Bertólez Sonia
- Qader Kawthar
- Qin Kirby R.
- Quadri Oladeji
- Quaresima Silvia
- Querney Jill
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- Rabie Mohamed
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- Radulescu Raluca Bievel
- Radwan Asmaa
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- Rahman Atiqur
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- Rai Lajpat
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- Raja Anand
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- Rajendram Rajkumar
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- Rampersad Lisa
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- Ranucci Maria Chiara
- Raphael Marie-Claire
- Raptis Dimitri Aristotle
- Rasheed Aqsa
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- Raurich-Leandro Jordi
- Rausa Emanuele
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- Ravindra Raevin
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- Recinos Gustavo
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- Recordare Alfonso
- Redondo Nuria Villacé
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- Reemst Peter
- Rega Daniela
- Regan Azel
- Reicher Marcello
- Reichert Martin
- Reid Jeremy
- Reilly John-Joe
- Reim Daniel
- Reis Igor
- Rela Mariam
- Render Luke
- Reyes Jeryl Anne Silvia
- Rezende Ricardo Fernandes
- Rhomberg Thomas
- Ribeiro João
- Riccetti Camilla
- Richard H.
- Rickard Jennifer
- Rincón Natalia Andrea Rivera
- Ripollés-Melchor Javier
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- Rodriguez Magdiel
- Rodriguez-Lopez Mario
- Rodríguez Lorena Varela
- Rokohl Alexander Christopher
- Roland Christina L
- Rolinger Jens
- Romano Angela
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- Romero Patricia
- Ronellenfitsch Ulrich
- Ros Emilio Peña
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- Rotunno Giuseppe
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- Rowe Christopher
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- Ryalino Christopher
- Ryan James
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- Sabbagh Abdulrahman J.
- Sabella Danielle
- Sablotzki Armin
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- Sachdev Gaurav
- Sachdeva Ashwin
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- Sadia Uzma
- Saed Abdel
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- Saeed Umar
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- Sagnotta Andrea
- Saguil Esther
- Sahni Arun
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- Saibene Alberto Maria
- Saif Areeba
- Sakakushev Boris
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- Salameh Fadi-Tamas
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- Salunke Pravin
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- Samadov Elgun
- Saman Pradeep I.H.D.
- Samara Athina
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- Sammour Tarik
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- Sandri Giovanni Battista Levi
- Sanli Ahmet Necati
- Santini Alasdair
- Santoro Antonio
- Santos-Costa Paulo
- Santoshi John Ashutosh
- Santric Veljko
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- Saracoglu Ayten
- Saracoglu Kemal
- Sari Ramazan
- Sarjanoja Elise
- Sars Carl
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- Wong Ho Ying Flora
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- Wormald Justin
- Wright Deborah
- Wright Joshua
- Wu Fiona
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- Yadev Ip
- Yahaya Ahmad Shuib
- Yakubu Mustapha
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- Yanik Özge
- Yanowsky-Reyes Guillermo
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- Yates Elizabeth
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- Yeoh Tien
- Yeung Justin
- Yiallourou Anneza
- Yigit Banu
- Yildirim Asif
- Yim Guang
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- Yonekura Hiroshi
- Yotsov Tsanko
- Younis Muhammad Umar
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- Yusefi Hossein
- Zabaleta Jon
- Zabkiewicz Catheriner
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- Zacharia Bincy
- Zafar Syed Nabeel
- Zago Mauro
- Zaheen Zakia
- Zahid Zahra
- Zaimis Tilemachos
- Zakaria Andee Dzulkarnaen
- Zambon Martina
- Zamora Lindsey
- Zampogna Biagio
- Zancana Giuseppa
- Zani Augusto
- Zanin Luca
- Zanini Nicola
- Zapardiel Ignacio
- Zapata Carlos Shiraishi
- Zarif Pierre
- Zaránd Attila
- Zehnder Philipp
- Zenger Serkan
- Zenha Horácio
- Zhu Michael Z. L.
- Ziemann Sebastian
- Zimak Danijela Mrazovac
- Zimak Zoran
- Zivkovic Dragana
- Zizzo Maurizio
- Zucker Benjamin
- Zwain Yasir
- Zyskowski Michael
- Ávila Clara Castro
- Älgå Andreas
- Çakici Mehmet Çaǧlar
- Çelik Enes
- Çelik Meryem Nur
- Özçay Necdet
- Şevik Hüsnü
- Šantak Goran
- Šimko Kristián
- Žatecký Jan
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2023
- Field of study
Abstract
Background
Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres.
Methods
This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries.
Results
In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia.
Conclusion
This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries
Underlying Event measurements in pp collisions at s=0.9 and 7 TeV with the ALICE experiment at the LHC
- Author
- A Buckley
- A Capella
- A. Kurepin
- A.B. Kurepin
- A.K. Dutta Majumdar
- Abdiel Ramirez Reyes
- Adam Ryszard Kisiel
- Adam Tomasz Matyja
- Adam Wlodzimierz Jacholkowski
- Aditya Nath Mishra
- Adrian Sevcenco
- Adriana Telesca
- Airton Deppman
- Ajay Kumar Dash
- Ajit Kumar Mohanty
- AK Aamodt
- Alain Baldit
- Alain Michalon
- Alberica Toia
- Alberto Baldisseri
- Alberto Gago
- Alberto Masoni
- Alberto Pulvirenti
- Alejandro Szanto de Toledo
- Alessandra Fantoni
- Alessandra Maria Mazzoni
- Alessandro De Falco
- Alessandro Ferretti
- Alessandro Grelli
- Alessandro Pesci
- Alexander Akindinov
- Alexander Borissov
- Alexander Hansen
- Alexander Kluge
- Alexander Mamonov
- Alexander Nedosekin
- Alexander Ochirov
- Alexander Philipp Kalweit
- Alexander Vinogradov
- Alexander Vodopianov
- Alexander Wilk
- Alexandr Tumkin
- Alexandre Alarcon do Passo Suaide
- Alexandre Nyanin
- Alexandre Rachevski
- Alexandre Shabetai
- Alexandru Bercuci
- Alexandru Florin Dobrin
- Alexei Kaidalov
- Alexei Khanzadeev
- Alexei Pavlinov
- Alexey Bogdanov
- Alexey Kuryakin
- Alexey Vyushin
- Alexis Jean-Michel Mas
- Alfredo Musso
- Alice Zimmermann
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- Ana Maria Marin
- Anand Kumar Dubey
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- Anatoly Kolojvari
- Anders Nils Erik Oskarsson
- Andras Gabor Agocs
- Andre Augustinus
- Andre Mischke
- Andrea Agostinelli
- Andrea Alici
- Andrea Dainese
- Andrea Danu
- Andrea De Azevedo Moregula
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- Andreas Morsch
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- Anselmo Margotti
- Ante Bilandzic
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- Anton Alkin
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- Armando Palmeri
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- Ashok Kumar Bhati
- Aurora Diozcora Vargas
- Ayben Karasu Uysal
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- Barbara Guerzoni
- Barthelemy von Haller
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- Bastian Bathen
- Bedangadas Mohanty
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- Beomsu Chang
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- Betty Abelev
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- Bjorn Steven Nilsen
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- Catia Petta
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- Do Won Kim
- Domenico Colella
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- Dominik Fehlker
- Don Constantin Vernekohl
- Dong Jo Kim
- Dong Wang
- Dosatsu Sakata
- Dumitru Hasegan
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- Edgar Perez Lezama
- Edith Zinhle Buthelezi
- Edmundo Garcia-Solis
- Eduardo Del Castillo Sanchez
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- Elienos Pereira De Oliveira Filho
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- Fedor Guber
- Felix Vincenz Rettig
- Fengchu Zhou
- Fernando Baltasar Dos Santos Pedrosa
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- Filip Krizek
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- Frederick Kramer
- G Aad
- G Aad
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- Gaute vrebekk
- Gennady Zinovjev
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Le fratture dell'anello pelvico negli incidenti motociclistici: Risultati funzionali a medio-lungo termine
- Publication venue
- Publication date
- 01/01/2010
- Field of study
Locking compression plate treatment of a pseudarthrosis of the tibia resulting from a gunshot injury [Trattamento con placca LCP di una pseudoartrosi di tibia in esiti di lesione da arma da fuoco]
- Publication venue
- Publication date
- 01/01/2012
- Field of study
Gli esiti a medio-lungo termine delle fratture instabili del sacro trattate chirurgicamente
- Publication venue
- Publication date
- 01/01/2010
- Field of study