6 research outputs found
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
- Author
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- Field of study
No full textGerm-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia
- Author
- A Chapelle de la
- Abdel G. Elkahloun
- C Ladroue
- C Yang
- Chunzhang Yang
- CJ Hu
- CS Schuetz
- D Yoon
- E Albiero
- Electron Kebebew
- FR Lorenzo
- GL Semenza
- I Jochmanova
- JT Prchal
- JT Prchal
- JW Lenders
- K Takeda
- Karel Pacak
- L Lanikova
- L Sokol
- M Ivan
- M Miyake
- M Scortegagna
- M Um
- MA Selak
- Maria Merino
- MF McMullin
- Michael G. Sun
- MJ Percy
- P Jaakkola
- Peter J. Kourlas
- Petra Bullova
- PR Arsenault
- Roland Zhu
- S Capodimonti
- SE Juul
- SO Ang
- Stephanie M. J. Fliedner
- T Jokilehto
- U Shankavaram
- Uma Shankavaram
- WG Kaelin Jr
- YM Tian
- Z Shi
- Z Zhuang
- Zhengping Zhuang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textA novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report
- Author
- A Pardanani
- AM Vannucchi
- C Ladroue
- C Ladroue
- C Maffettone
- C Yang
- Chunzhang Yang
- DL Zhang
- EG Meyron-Holtz
- EJ Baxter
- FR Lorenzo
- G Chen
- Garima Gupta
- GL Semenza
- Herui Wang
- J Dupuy
- J Wang
- JP Greer
- JT Prchal
- K Pacak
- K Pantopoulos
- Karel Pacak
- L Lanikova
- M Sanchez
- M Zimmer
- MC Ghosh
- Melanie J. Percy
- MJ Percy
- MJ Percy
- MW Hentze
- N Wilkinson
- N Wilkinson
- NL Tomasic
- R Darr
- R Kralovics
- SA Anderson
- SR Smith
- Svetlana D. Pack
- TA Rouault
- Terence R. J. Lappin
- Thanh-Truc Huynh
- VH Haase
- WE Walden
- XR Yang
- Ying Pang
- Z Zhuang
- Zhengping Zhuang
- Ziedulla Abdullaev
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textIdentification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
- Author
- Alexandre Buffet
- Ang
- Anne Couturier
- Anne-Paule Gimenez-Roqueplo
- Antonis Kattamis
- Bento
- Bento
- Berger
- Betty Gardie
- Bin Tean Teh
- Brigitte Bressac-de Paillerets
- Burnichon
- Camps
- Cario
- Carme Camps
- Celeste Bento
- Chesnel
- Clifford
- Couvé
- Czyzyk-Krzeska
- Céline Garrec
- David Hoogewijs
- Elpis Mantadakis
- Erika Kvikstad
- Fabrice Airaud
- Florence Robriquet
- Franck Chesnel
- François Girodon
- Gaildrat
- Gnarra
- Gordeuk
- Hascoet
- Helene Dreau
- Holger Cario
- Iliopoulos
- Jean-Michaël Mazzella
- Jenny C. Taylor
- Joachim R. Göthert
- Kaelin
- Karim Bouchireb
- Klaus Schwarz
- Klaus-Michael Debatin
- Kondo
- Ladroue
- Lanikova
- Latif
- Laurence Heidet
- Liu
- Maher
- Maria Caterina Putti
- Maria-Luigia Randi
- Marine Cornec
- Marion Lenglet
- Mathias Vilaine
- Mathilde Pacault
- Maxwell
- Melissa Pentony
- Nelly Burnichon
- Nicolas Janin
- Nordstrom-O’Brien
- Pierre Lindenbaum
- Randi
- Richard
- Richard Redon
- Richard Van Wijk
- Richards
- Rimmer
- Sabine Irtan
- Sable
- Samantha J. L. Knight
- Schoenfeld
- Solenne Dumont
- Sophie Couvé
- Sophie Deveaux
- Sophie Ferlicot
- Sophie Gad
- Stebbins
- Stéphane Bezieau
- Stéphane Richard
- Sylvie Job
- Thomas Besnard
- Vincent Bours
- Woodward
- Yannick Arlot-Bonnemains
- Publication venue
- 'American Society of Hematology'
- Publication date
- Field of study
No full textChallenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use
- Author
- A Frankish
- A Stengel
- A Tefferi
- A Tefferi
- A Tefferi
- A Tefferi
- A Tefferi
- A Zebisch
- AL Young
- AM Vannucchi
- B Bhatnagar
- B Kwok
- C Nielsen
- CA Ortmann
- Cancer Genome Atlas Research.
- Cancer Genome Atlas Research.
- CJ Gibson
- D Hanahan
- D Sims
- DA Arber
- DA Hinds
- DC Bellissimo
- DJ McCarthy
- DP Steensma
- E Braekeleer De
- E Papaemmanuil
- E Papaemmanuil
- E Rumi
- E Samorodnitsky
- E Taskesen
- E Wang
- EJ Duncavage
- ER Mardis
- F Mertens
- G Genovese
- Genomes Project.
- GG Ploen
- H Carter
- H Dohner
- H Tan
- HB Ommen
- I Abnizova
- International Cancer Genome.
- J Zhang
- JA Sleep
- JE Churpek
- JJ Salk
- JR Pon
- JS Welch
- K Kapralova
- K Nakamura
- K Shiroguchi
- K Tawana
- K Yoshida
- L Lanikova
- LA Clarke
- LM Bragg
- M Cazzola
- M Jongen-Lavrencic
- M Lek
- M Xie
- ME Talkowski
- MP Dolled-Filhart
- MR Stratton
- MT Wolfinger
- MW Drazer
- MW Ruijs
- NM Cruz
- P Guglielmelli
- P Lundberg
- PA Futreal
- PD Stenson
- R Bejar
- R Bejar
- S Feurstein
- S Goodwin
- S Jaiswal
- S Kappel
- S Roy
- S Shin
- SA Forbes
- T Haferlach
- T Pabst
- TC Glenn
- U Bacher
- VA Schneider
- W Alduaij
- W Song
- W Tapper
- W Vainchenker
- WC Wong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textVHL, the story of a tumour suppressor gene
- Author
- A Bommi-Reddy
- A Cascon
- A Elorza
- A Grosfeld
- A Hergovich
- A Hergovich
- A Kibel
- A Lindau
- A Pause
- A Pause
- A Schoenfeld
- A Sendoel
- A Takahashi
- A van den Berg
- A Viger
- AA Hakimi
- AA Hakimi
- AC Young
- AG Knudson Jr.
- AJ Evans
- AJ McClellan
- AJ Pantuck
- AM Roberts
- AP Young
- AR Schoenfeld
- AR Webster
- AV Kuznetsova
- B Escudier
- B Keith
- B Knebelmann
- B Schermer
- B Zbar
- BI Rini
- BL Petrella
- BL Petrella
- C Bento
- C Bento
- C Beroud
- C Blankenship
- C Eng
- C Gallou
- C Gallou
- C Pena
- C Ricketts
- C Shen
- C Vinson
- CE Stebbins
- CJ Creighton
- CJ Hu
- CR Thoma
- CR Thoma
- CR Thoma
- D Cho
- D Mukhopadhyay
- D Zagzag
- DA Chan
- DE Feldman
- DR Duan
- E van Rooijen
- E Von Hippel
- Eamonn R. Maher
- EB Rankin
- EB Rankin
- EB Rankin
- EB Rankin
- EB Rankin
- ER Maher
- ER Maher
- ET Collins
- F Chen
- F Latif
- F Yu
- G Duns
- G Duns
- G Franke
- G Guo
- G Kurban
- G Kurban
- G van Haaften
- GL Dalgliesh
- GL Semenza
- GL Semenza
- GM Glenn
- GM Woldemichael
- GM Woldemichael
- H Okuda
- H Qi
- H Yang
- HA Bluyssen
- HP Neumann
- HP Neumann
- HR Bokesch
- HT Cohen
- I Varela
- IJ Frew
- J An
- J Brugarolas
- J Frydman
- J Garcia-Donas
- J Lisztwan
- J Oberstrass
- J Schodel
- JD Gordan
- JH Kim
- JH Min
- JK Maranchie
- JK Maranchie
- JL Da Silva
- JM Whaley
- JR Gnarra
- JR Gnarra
- JS Green
- JS Roe
- JS Roe
- K Datta
- K Foster
- K Iwai
- K Knauth
- K Kondo
- K Kondo
- K Lee
- K Sato
- K Tanimoto
- K Tory
- KL Melmon
- KM Lonergan
- KR Ong
- L Fu
- L Fu
- L Gossage
- L Gossage
- L Gunaratnam
- L Lanikova
- L Li
- L Wang
- LA Rafty
- Lucy Gossage
- M Baba
- M Gerlinger
- M Gruber
- M Ivan
- M Krieg
- M Nordstrom-O'Brien
- M Ohh
- M Ohh
- M Scortegagna
- M Zatyka
- M Zimmer
- M Zimmer
- MA Esteban
- MA Esteban-Barragan
- MA Hoffman
- ME Cockman
- ME Crosby
- MM Hickey
- MM Hickey
- MP Rechsteiner
- MS Lutz
- MZ Wu
- N Sanchez-Puig
- N Tang
- NG Nickols
- NH Stickle
- NL Tomasic
- O Iliopoulos
- O Iliopoulos
- O Iliopoulos
- O Mikhaylova
- P Jaakkola
- P Staller
- PA Crossey
- PH Maxwell
- PJ Pollard
- Q Ji
- RC Russell
- RK Bruick
- RR Raval
- RS Bindra
- S Beyer
- S Capodimonti
- S Danilin
- S Gad
- S Galban
- S Glasker
- S Lee
- S Pena-Llopis
- S Turcotte
- S Wizigmann-Voos
- SA Forbes
- SC Clifford
- SC Clifford
- SJ Mandriota
- SK Harten
- SM Welford
- SO Ang
- T Bishop
- T Grkovic
- T Kamura
- T Kishida
- T Shuin
- TH Scheuermann
- TH Scheuermann
- Tim Eisen
- TK Choueiri
- TK Choueiri
- VA Carroll
- WC Hon
- WG An
- WG Kaelin Jr.
- WY Kim
- WY Kim
- X Niu
- X Xia
- Y Jiang
- Y Sato
- YD Pastore
- Z Ding
- Z Ding
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full text
