Results 271 to 279 of about 8,409,709 (279)

X-Linked Disorders With Intellectual Disability and Autism

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

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Parkinsonism and Related Disorders, 2017
Alessio di Fonzo, Carrera Paola, Maria Teresa Bonati   +2 more
exaly  

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features

European Journal of Medical Genetics, 2012
Jessica A Hellings
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
Vera Kalscheuer, Charles Schwartz, Józef Gécz   +2 more
exaly  

Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability

American Journal of Medical Genetics, Part A, 2014
Nancy Philp, Viola Alesi, Antonio Novelli   +2 more
exaly  

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

European Journal of Medical Genetics, 2016
Isabelle Maystadt, Stephanie Moortgat, Damien Lederer   +2 more
exaly  

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

Pediatric Neurology
Tuba Sozen Türk, Filiz Hazan, Aycan Ünalp   +2 more
exaly  

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

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

Genetics of X ‐Linked Intellectual Disability

exaly