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oai:serval.unil.ch:BIB_83FFDC95F451
2024-03-23T02:37:37Z
serval:BIB_83FFDC95F451
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
10.1136/jmedgenet-2020-107470
000728622000001
34321323
Velmans
C.
author
O'Donnell-Luria
A.H.
author
Argilli
E.
author
Tran Mau-Them
F.
author
Vitobello
A.
author
Chan
M.C.
author
Fung
J.L.
author
Rech
M.
author
Abicht
A.
author
Aubert Mucca
M.
author
Carmichael
J.
author
Chassaing
N.
author
Clark
R.
author
Coubes
C.
author
Denommé-Pichon
A.S.
author
de Dios
J.K.
author
England
E.
author
Funalot
B.
author
Gerard
M.
author
Joseph
M.
author
Kennedy
C.
author
Kumps
C.
author
Willems
M.
author
van de Laar
IMBH
author
Aarts-Tesselaar
C.
author
van Slegtenhorst
M.
author
Lehalle
D.
author
Leppig
K.
author
Lessmeier
L.
author
Pais
L.S.
author
Paterson
H.
author
Ramanathan
S.
author
Rodan
L.H.
author
Superti-Furga
A.
author
Chung
BHY
author
Sherr
E.
author
Netzer
C.
author
Schaaf
C.P.
author
Erger
F.
author
article
2022-07
Journal of medical genetics
1468-6244
0022-2593
journal
59
7
697-705
Autism Spectrum Disorder/genetics
Child
Humans
Intellectual Disability/diagnosis
Intellectual Disability/epidemiology
Intellectual Disability/genetics
Megalencephaly
Neurodevelopmental Disorders
Seizures/epidemiology
Seizures/genetics
Syndrome
Whole Exome Sequencing
behavioural
genetic counselling
genetics
human genetics
mutation
eng
60_published
peer-reviewed
Publication types: Journal Article
Publication Status: ppublish
https://serval.unil.ch/notice/serval:BIB_83FFDC95F451
https://serval.unil.ch/resource/serval:BIB_83FFDC95F451.P001/REF.pdf
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