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3 research outputs found
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
Author
A Rosenthal
AJ Jiménez
+29 more
AM Guihard-Costa
AM Guilhard-Costa
B Sitek
C Oliver
C Ullmer
C Wagner
CM Itallie Van
EM Rodríguez
EV Wong
GH Mochida
H Adle-Biassette
H Yamamoto
HL Rekate
HM Tully
J Zhang
JH Lui
MC O'Driscoll
MR Bigio Del
MS Al-Dosari
P Saugier-Veber
SE Craven
TH Chae
TN Munch
X Ma
Y Hamazaki
Y Saillour
Y Sugihara-Mizuno
YJ Vos
YJ Vos
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
THE SPECTRUM OF TYPE III LISSENCEPHALY: A CLINICOPATHOLOGICAL UPDATE
Author
Alixe Clémenson
Annie Buenerd
+31 more
Attia-Sobol J
Barth P
Barth P
Beltran-Valero de Bernabe D
Del Bigio M
Ejeckam G
Encha-Razavi F
Encha-Razavi F
Fabienne Allias
Fitch N
Frédérique Dijoud
Férechté Encha-Razavi
Guilhard-Costa A
Hickey P
Holzbach U
Jocelyne Attia-Sobol
Kato M
Kjaergaard S
Laxova R
Manning MA
Michele D
Moessinger A
Moore S
Motoyama N
Neu R
Norman M
Ostrovskaya T
Raymonde Bouvier
Roth K
Russo R
Tolmie J
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
Author
A Gloster
AJ Barkovich
+43 more
Alice Goldenberg
AM Guilhard-Costa
Annie Laquerrière
BS Chang
C Fallet-Bianco
CA Moores
CA Moores
D Bonneau
D Horesh
DA Keays
DJ Morris-Rosendahl
E Berry-Kravis
F Francis
F Francis
G Tian
Gaëlle Friocourt
J Löwe
Jamel Chelly
JG Gleeson
JG Gleeson
JW Hammond
K Kitamura
K Poirier
Karine Poirier
KM Boycott
L Abuhatzira
M Kato
M Kikkawa
M Zaki
Magalie Lecourtois
N Bahi-Buisson
O Reiner
Pascale Saugier-Veber
S Okazaki
SE Hong
SM Wei
T Coksaygan
T Sapir
V Des Portes
WB Dobyns
WB Dobyns
Xavier Jaglin
XH Jaglin
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref