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  4. The genetic basis of DOORS syndrome: an exome-sequencing study
Details

The genetic basis of DOORS syndrome: an exome-sequencing study

Journal
The Lancet Neurology
ISSN
1474-4422
Date Issued
2014
Author(s)
Philippe M Campeau
Dalia Kasperaviciute
James T Lu
Lindsay C Burrage
Choel Kim
Mutsuki Hori
Berkley R Powell
Fiona Stewart
Têmis Maria Félix
Jenneke van den Ende
Marzena Wisniewska
Hülya Kayserili
Patrick Rump
Sheela Nampoothiri
Salim Aftimos
Antje Mey
Lal D V Nair
Michael L Begleiter
Isabelle De Bie
Girish Meenakshi
Mitzi L Murray
REPETTO LISBOA, MARIA GABRIELA  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Mahin Golabi
Edward Blair
Alison Male
Fabienne Giuliano
Ariana Kariminejad
William G Newman
Sanjeev S Bhaskar
Jonathan E Dickerson
Bronwyn Kerr
Siddharth Banka
Jacques C Giltay
Dagmar Wieczorek
Anna Tostevin
Joanna Wiszniewska
Sau Wai Cheung
Raoul C Hennekam
Richard A Gibbs
Brendan H Lee
Sanjay M Sisodiya
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-84892372632
WoS ID
WOS:000329000900017
DOI
10.1016/S1474-4422(13)70265-5
URL
https://investigadores.udd.cl/handle/123456789/2936
Subjects
mental-retardation

; 

infantile seizures

; 

focal epilepsy

; 

mutations

; 

deafness

; 

disorders

; 

proteins

; 

spectrum

; 

domain
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