9 research outputs found
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
- Author
- A Johansen
- Andrea Caddeo
- Andrew H. Crosby
- AR Sung
- Asma Gul
- Asmat Ullah
- BS Budde
- CA Brown
- CJ Hendriksz
- D Yalnızoǧlu
- Emma L. Baple
- FE Kleiman
- G PĂ©rez-ChacĂłn
- Gaurav V. Harlalka
- Hao Hu
- HC Lee
- HC Lee
- IA Khatri
- JG Dauwerse
- Joseph E. Jacher
- K Sandhoff
- Lettie E. Rawlins
- MS Durkin
- Muhammad Javed
- Muhammad Umair
- Muhammad Umair
- P Gaignard
- RLP Santos-Cortez
- S Zampieri
- Shaheen Shahzad
- Shazia Khan
- Wasim Ahmad
- À Garcia-Cazorla
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/12/2019
- Field of study
Get PDFNeurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden.This article is freely available via Open Access. Click on the Publisher URL to access the full-text
Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Get PDFDelineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
- Author
- Publication venue
- 'Cold Spring Harbor Laboratory'
- Publication date
- 01/07/2019
- Field of study
No full textCollapsed haplotype pattern method for linkage analysis of next-generation sequence data
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textGenetics of scars and keloids
- Author
- A Al-Attar
- A Bayat
- A Bayat
- A Bayat
- A Emami
- A Onoufriadis
- A Sasaki
- A Vecchione
- AE Brissett
- AG Marneros
- AG Marneros
- AL Kar van de
- AP Kelly
- Ardeshir Bayat
- B Berman
- B Shih
- B Shih
- C Huang
- CJ Burk
- CK Hsu
- CK Hsu
- D Bloom
- DA Glass 2nd
- DI Phillips
- DR Velez Edwards
- DR Warner
- DT Robles
- E Korzus
- E Lander
- EJ Fitzgerald O'Connor
- F Malfait
- F Zhu
- FJ Child
- G Zhang
- GC Gurtner
- GG Gauglitz
- GM Saed
- H Ishihara
- H Yoshimoto
- HI Harn
- HI Harn
- IC LeFlore
- JA Clark
- JJ Brown
- JJ Brown
- JJ Brown
- JS Diao
- JY Lee
- L Yan
- M Nakashima
- N Coant
- P Omo-Dare
- PA Siraganian
- PD Butler
- PS Atwal
- R Ogawa
- R Ogawa
- RLP Santos-Cortez
- S Chung
- S He
- S Ud-Din
- SB Russell
- T Daian
- TA Manolio
- TL Tuan
- WC Huang
- X Yan
- Y Chen
- Y Chu
- Y He
- Y Tu
- Z Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 29/11/2019
- Field of study
No full textFamily studies to find rare high risk variants in migraine
- Author
- A Aylward
- A Carlsson
- A Gustavsson
- A Oterino
- AE Timms
- ALEG Guttmacher
- Anne Francke Christensen
- B Georgi
- B Li
- B Vries de
- B Xu
- BE Bernstein
- BH Maher
- C Cruceanu
- C Cruchaga
- C Road
- D Tanaka
- DR Nyholt
- DR Nyholt
- DT Okou
- DW Bowden
- E Lander
- EJ Mulder
- European Commission
- F Sanger
- FS Goes
- G Lettre
- GR Abecasis
- GR Abecasis
- HN Cukier
- HY Xiong
- I Andres-Enguix
- J Altmu
- J Egawa
- J Ligt de
- J Marchini
- JC Venter
- Jes Olesen
- JL Farlow
- JM Hickey
- JY An
- KA Frazer
- KA Strauss
- L Lionetto
- L Russo
- L Shi
- M Dichgans
- M Fusco De
- M Johnson
- M Kirchmann
- M Kirchmann
- M Nyegaard
- M Saad
- M Zameel Cader
- MA Kohli
- MB Russell
- MB Russell
- MB Russell
- MI McCarthy
- MJ Bossche Van Den
- MK Wetzel-Smith
- NJ Schork
- O Zuk
- P Gormley
- P Tfelt-Hansen
- P Tikka-Kleemola
- R Ratnapriya
- RA Ophoff
- RA Ophoff
- RG Lafrenière
- Rikke Dyhr Hansen
- RK Cady
- RLP Santos-Cortez
- S Prudente
- T Liu
- TA Manolio
- The International HapMap Consortium
- The International SNP Map Working Group
- The Subcutaneous Sumatriptan International Study Group
- V Anttila
- V Ulrich
- V Ulrich
- V Ulrich
- WG Feero
- Y Jiang
- Y Okada
- Y Yu
- Z Zhou
- ZM Cader
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textAcid ceramidase deficiency: Farber disease and SMA-PME
- Author
- A Ahmad
- A Behin
- A Biffi
- A Dagan
- A Fiumara
- A Gebai
- A Gómez-Muñoz
- A Jarisch
- A Nasreen
- A Schafer
- A Solyom
- A Solyom
- A Willis
- AC Crocker
- AE Cremesti
- AF Schanche
- AH Fensom
- AH Futerman
- AK Chedrawi
- AL Prensky
- AM Alayoubi
- ARR Devi
- B Cartigny
- B Soreghan
- BG Giráldez
- BL Thurberg
- C Bedia
- C Bedia
- C Cozma
- C De Duve
- C Fusch
- C Li
- C Li
- C Li
- C Navarro
- C Schmoeckel
- C Schmoeckel
- CT Scott
- D Schnabel
- DA Dyment
- DA Dyment
- DG Cogan
- E Eliyahu
- E Eliyahu
- E Ferlazzo
- E Kattner
- E Oguz Akarsu
- ED Kakkis
- EH Schuchman
- EH Schuchman
- EP Yildiz
- F Al Jasmi
- F Farina
- F Hoof
- Fabian P. S. Yu
- FPS Yu
- G D'Ecclesia
- G Genovese
- G Haliloglu
- G Haraoka
- G Molz
- G Rubboli
- G Schultze
- G Souillet
- G van Echten-Deckert
- G van Lijnschoten
- GH Amirhakimi
- H Hulkova
- H Moritomo
- H Ozaki
- H Topaloglu
- H Zhang
- HJ Rauch
- HL Teoh
- HW Moser
- HW Moser
- I Petrache
- IA Chikova
- J Bär
- J Huang
- J Jankovic
- J Johannsen
- J Koch
- J Mendell
- J Mitchell
- J Rivel
- J Sikora
- J Vormoor
- J Zhou
- JA Medin
- Jeffrey A. Medin
- JF Pellissier
- JJ Boelens
- JJ Gan
- JR Mendell
- JS Walia
- JT Dulaney
- JW Lance
- K Bernardo
- K Ehlert
- K Ferlinz
- K Harzer
- K Raith
- K Raith
- K Samuelsson
- KD Kernohan
- L Arana
- L Bonafé
- L Cvitanovic-Sojat
- L Eviatar
- L Lopez-Vasquez
- L Naldini
- L Pavone
- L Zappatini-Tommasi
- M Chanoki
- M Chatelut
- M Erfan
- M Filosto
- M Gu
- M Iwamori
- M Koga
- M Muranjan
- M Nowaczyk
- M Ohfu
- M Sessa
- M Sugita
- M Sugita
- M Taglioli
- M Tani
- M Tardieu
- M Toppet
- M Torcoletti
- MA El-Darouti
- MA Zarbin
- MC Sullards
- MD Bashyam
- MJ Landrum
- MK Salo
- MM Kostik
- MP Wasserstein
- MQ Alves
- N Azuma
- N Okino
- N Shtraizent
- NW Barton
- P Abenoza
- P Dustin
- P Gangoiti
- P Harmatz
- PP Van Veldhoven
- R Chandwani
- R Schiffmann
- R Zetterström
- RA Morgan
- RJ Boado
- RK Yu
- RLP Santos-Cortez
- S Antonarakis
- S Antonarakis
- S Dworski
- S Farber
- S Farber
- S Gatt
- S Ramsubir
- S Sathe
- S Saygi
- Samuel Amintas
- SJ Qualman
- SK Abul-Haj
- SM Bierman
- SM Lee
- SY Kim
- T Fujiwaki
- T Kasumov
- T Kudoh
- T Levade
- T Levade
- T Momoi
- T Muramatsu
- T Tanaka
- Thierry Levade
- U Burck
- U Klingkowski
- V Colamaria
- V Nivaggioni
- X Han
- X He
- X He
- XH Bao
- Y Ben-Yoseph
- Y Pewzner-Jung
- YA Hannun
- YJ Kim
- Z Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textEvolutionary Conservation and Expression of Human RNA-Binding Proteins and Their Role in Human Genetic Disease
- Author
- A Antonellis
- A Antonellis
- A Aravin
- A Castello
- A Castello
- A Cléry
- A Esquela-Kerscher
- A Fabre
- A Fogli
- A Fullam
- A Gambardella
- A Girard
- A Götz
- A Hamosh
- A Jordanova
- A Mankodi
- A Marchler-Bauer
- A Marrone
- A Massart
- A Murray
- A Narla
- A Saada
- A Servadio
- A Smogorzewska
- A Splendore
- A Tanaka
- A Zeharia
- AB McKie
- AC Elden
- AC Gingras
- AE Hall
- AE McKee
- AG Baltz
- AG Matera
- AG Murzin
- AG Murzin
- AH Crosby
- AJ Matlin
- AJ Shatkin
- AJ Walne
- AK Gedeon
- AK Gubitz
- AM Alazami
- AM Alazami
- AM Anger
- AM Dumitrescu
- AM Pyle
- AM Tamburino
- AP Abreu
- AR Kornblihtt
- AV Korobeinikova
- AY Tan
- AZ Andreou
- B Barckmann
- B Brais
- B Marszalek
- B Nawrot
- B Rabe
- B Simon
- B Talim
- BK Pannone
- BM Degnan
- BM Lunde
- BM Peterlin
- BR Szymczyna
- BS Budde
- BS Negrutskii
- C Chiu
- C Criscuolo
- C Gamberi
- C Gelpi
- C Klattenhoff
- C Lagier-Tourenne
- C Larroux
- C Maris
- C Mayr
- C Miller
- C Vance
- C Zhao
- C-G Cheong
- CA Chénard
- CA Kim
- CA Wise
- CF Chakarova
- CG Burd
- CH Tsai-Morris
- CJ Klein
- CJ Wilusz
- CL Liquori
- CL Martin
- CM Brennan
- CR Faehnle
- CT Gordon
- CW Smith
- D Astuti
- D Cassandrini
- D Devys
- D Ghezzi
- D Kaida
- D Kressler
- D Ruggero
- D Wöhrle
- DA Hill
- DB Stetson
- DE Matthews
- DE Neilson
- DF Colgan
- DJ Battle
- DJ Hogan
- DL Black
- DL Nelson
- DP Bartel
- DW Parsons
- E Bernstein
- E Cavdar Koc
- E Fernandez-Vizarra
- E Hahnen
- E Jankowsky
- E Jankowsky
- E Karaca
- E Kaymak
- E Lund
- E Nakashima
- E Park
- E Vanrobays
- EB Lee
- ED Egan
- EE Winter
- EG Puffenberger
- EJ Kremer
- EM Phizicky
- EN Vithana
- ES Regalado
- ET Wang
- ET Wang
- F Durocher
- F Muscatelli
- F Zhong
- F-M Boisvert
- FP Bernier
- G Cancel
- G Casey
- G Dreyfuss
- G Hutvagner
- G Liu
- G Masliah
- G Meister
- G Simos
- G Tanackovic
- G-S Wang
- GA Calin
- GC Scheper
- GC Scheper
- GI Rice
- GI Rice
- GI Rice
- GI Rice
- GL Xu
- GM Stettner
- GRB Boocock
- GV Echeverria
- GW Yeo
- H Antonicka
- H Guo
- H Ichikawa
- H Ishizu
- H Kanegane
- H Kaneko
- H Kobayashi
- H Matsson
- H Omran
- H Sandler
- H Shimazaki
- H Yamaguchi
- H Zhang
- HA Gold
- HE Shamseldin
- HF Rosenberg
- HJ Kim
- HL Tan
- HM McLaughlin
- HO Nousiainen
- HT Gazda
- HT Gazda
- HT Orr
- I Letunic
- I Mickleburgh
- I Panagopoulos
- I Panagopoulos
- I Pettersson
- I Ulitsky
- IG Wool
- IG Wool
- IMBH Laar van de
- J Armistead
- J Carpten
- J Cho
- J Coller
- J Cools
- J Hauptmann
- J Kufel
- J la Cruz de
- J Liu
- J Nousbeck
- J Ramser
- J Ramser
- J Rankin
- J Senderek
- J Simard
- J Sommerville
- J Sreedharan
- J Ule
- J Wan
- J Winkelmann
- JAM Smeitink
- JC Czeschik
- JC Ellis
- JC Ravenscroft
- JC Venter
- JD Beggs
- JE Farrar
- JE Thornton
- JF Raven
- JF Russell
- JH Griffin
- JJ Johnston
- JJ Song
- JJ Song
- JL Bell
- JM Cobben
- JM Elo
- JM Liu
- JM Vaquerizas
- JP Bachellerie
- JP Cheadle
- JP Hendrick
- JR Buchan
- JR Hogg
- JR Howe
- JT Anderson
- JW Miller
- K Anthony
- K Bhalla
- K Freude
- K Grohmann
- K Gwinn-Hardy
- K Kapeli
- K Kuchta
- K Nakanishi
- K Sakai
- K Sawicka
- K Schmidt
- K Zheng
- K-P Lin
- K-Y Chang
- KA Hanson
- KB Cook
- KD Tsakiri
- KE Hekman
- KE Lukong
- KM Brauch
- KM Drake
- L Abbasi-Moheb
- L Aravind
- L Aravind
- L Doherty
- L Galmiche
- L IJlst
- L Liu-Yesucevitz
- L Monti
- L Peters
- L Rajkowitsch
- L Valente
- L Volpi
- L Zhang
- LE Muñoz
- LE Simone
- LELM Vissers
- LG Riley
- LH Castilla
- LR Saunders
- LT Timchenko
- M Abdelhaleem
- M Ascano
- M Ascano
- M Ascano
- M Ashburner
- M Brook
- M Ciganda
- M Dean
- M Delépine
- M Esteller
- M Fardaei
- M Feinstein
- M Gonzatti-Haces
- M Hafner
- M Hafner
- M Henneke
- M Jinek
- M Kanehisa
- M Kirwan
- M Köhn
- M Mihailovich
- M MĂĽller-McNicoll
- M Orloff
- M Parisi
- M Pascual
- M Ramaswami
- M Schutte
- M Teplova
- M Wan
- M Wickens
- M-C Chartier-Harlin
- M-C Moreira
- M-C Tessier
- M-X Guan
- MA Khan
- MA Lines
- MB Harms
- MC Costanzo
- MC Siomi
- MC Siomi
- ME Fairman-Williams
- ME Steenweg
- MG Berg
- MJ Greenway
- MJH Coenen
- MK Atianand
- ML Wilbert
- MN Weedon
- MP Perron
- MR Lerner
- MR-C Kraus
- MS Knaap van der
- MT Lovci
- MT Nasim
- MY Armanios
- N Beloglazova
- N Draptchinskaia
- N Jarrous
- N Proudfoot
- N Proudfoot
- N Tomasevic
- NK Tanner
- NS Heiss
- NT Schirle
- NV Grishin
- O Agamy
- O Caluseriu
- O Esakova
- O Wapinski
- P Broderick
- P Fabrizio
- P Grabowski
- P Hackman
- P Hagerman
- P Huppke
- P Ivanov
- P Kerner
- P Khusial
- P Lasko
- P Lasko
- P Lasko
- P Latour
- P Linder
- P Linder
- P Miura
- P Nissen
- P Seibler
- P Smits
- P Yao
- PA Leegwater
- PAF Galante
- PH Yen
- PJ Batista
- PS Tarpey
- Q Li
- Q Xu
- R Amouri
- R Apweiler
- R Belostotsky
- R Cmejla
- R Martin
- R Parker
- R Parker
- R Reijo
- R Roberts
- R Sandberg
- R Singh
- R Valverde
- RC Wilson
- RD Finn
- RE Amir
- RJ Buckanovich
- RJ DeHoratius
- RJ Hagerman
- RJ Maraia
- RJ Maraia
- RJ Taft
- RJA Frost
- RK Singh
- RLP Santos-Cortez
- RS Brown
- RS Pillai
- S Banfi
- S Boissel
- S Brickwood
- S Camargos
- S Curry
- S Edvardson
- S Gill
- S Granneman
- S Henikoff
- S Hussain
- S Lefebvre
- S Melnikov
- S Monemi
- S Paushkin
- S Rocak
- S Shastry
- S Sim
- S Tharun
- S Tharun
- S von Ameln
- S Xiao
- S Yamasaki
- S-C Ling
- SA Brooks
- SA Lachke
- SA Melo
- SA Melo
- SB Pierce
- SB Pierce
- SC Kwon
- SD Auweter
- SF Mitchell
- SJL Knight
- SM Cerritelli
- SM Hammond
- SM Klauck
- SM Pasternack
- SM Pulst
- SP Daiger
- ST Grivna
- SV Tavtigian
- SW Knight
- SW Knight
- T Achsel
- T Fukuda
- T Glisovic
- T Kiss
- T Kiss
- T Miki
- T Pearson
- T Rio Frio
- T Scherrer
- T Suzuki
- T Thomson
- T Thomson
- T Vulliamy
- T Yanase
- TA Cooper
- TA Graubert
- TB Haack
- TB Haack
- TBN Ly
- TE Dever
- TI Lee
- TJ Keen
- TJ Kwiatkowski
- TJ Vulliamy
- TW O’Brien
- US Gaipl
- V Anantharaman
- V Arcus
- V Bonifati
- V Sossi
- V Vedrenne
- VCM Neeve
- VK Mootha
- VM Kalscheuer
- VN Kim
- W Al-Sukhni
- W Berger
- W Filipowicz
- W Guo
- WA May
- WD Foulkes
- WM Merritt
- WP Kloosterman
- WT Gibson
- X Chen
- X Du
- X Wang
- X Wang
- X Xie
- XQ Wang
- Y Bennasser
- Y Bykhovskaya
- Y Dorsett
- Y Lee
- Y Li
- Y Miyamura
- Y Muto
- Y Peer Van de
- Y Tian
- Y Wakamatsu
- Y Wang
- Y Wang
- Y Xing
- YA Savva
- YJ Crow
- YJ Crow
- YK Hayashi
- YR Li
- Z Dezso
- Z Siprashvili
- Z Zhang
- Z Zhang
- ZH Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full text
