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2 research outputs found
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
Author
Ali Fawaz
André Mégarbané
+29Â more
B Ortiz
C Azimi
Cecile Mignon-Ravix
D Pinto
E Rose
Eliane Chouery
FS Jehee
G Girotto
G Girotto
H Takahashi
J Elia
J Greenwood
J Meulen Van der
Joelle Abou Ghoch
K Mizuno
K Shimojima
Laurent Villard
LELM Vissers
MA Distel
MEM Swinkels
N Mitsui
N Uetani
Nancy Choucair
Pierre Cacciagli
R Chiusaroli
RQ Schaapveld
T Yoshida
V Kimonis
WJAJ Hendriks
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
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Crossref
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome
Author
Dorn T
Lemke JR
+5Â more
Rapps N
Strehlow V
Swinkels MEM
Syrbe S
Thomas RH
Publication venue
'S. Karger AG'
Publication date
Field of study
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