Results 281 to 288 of about 43,167 (288)

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

Clinical Genetics, 2011
B Röthlisberger, P Demougin, Friedemann Wenzel   +2 more
exaly  

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

European Journal of Medical Genetics, 2014
Andressa Pereira Gonçalves, Marcia Mattos Gonçalves Pimentel, Cintia Barros Santos-Rebouças   +2 more
exaly  

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

Journal of Biological Chemistry, 2018
Marie Shaw, Vera M Kalscheuer, Juliet Taylor   +2 more
exaly  

X-Linked Disorders With Intellectual Disability and Autism

Charles E. Schwartz, Roger E. Stevenson, Tao Wang   +2 more
openaire   +1 more source

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

European Journal of Medical Genetics, 2017
Józef Hertecant, Makanko Komara, Hong Cui   +2 more
exaly  

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes

Pediatric Neurology
Semra Gursoy, Ceren Yilmaz Uzman, Kadri Murat Erdogan   +2 more
exaly  

Genetics of X ‐Linked Intellectual Disability

exaly  

[A sibling case of X-linked intellectual disability].

No to hattatsu = Brain and development, 2015
openaire   +1 more source