about
MeCP2, a key contributor to neurological disease, activates and represses transcriptionA novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3Synaptic, transcriptional and chromatin genes disrupted in autismThe story of Rett syndrome: from clinic to neurobiologyEvolution of Osteocrin as an activity-regulated factor in the primate brainDysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesUsing whole-exome sequencing to identify inherited causes of autism.A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations.Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.The diverse genetic landscape of neurodevelopmental disorders.Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.The ubiquitin proteasome pathway in neuropsychiatric disorders.A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDKPSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Maria H Chahrour
@ast
Maria H Chahrour
@en
Maria H Chahrour
@es
Maria H Chahrour
@nl
type
label
Maria H Chahrour
@ast
Maria H Chahrour
@en
Maria H Chahrour
@es
Maria H Chahrour
@nl
prefLabel
Maria H Chahrour
@ast
Maria H Chahrour
@en
Maria H Chahrour
@es
Maria H Chahrour
@nl
P106
P21
P31
P496
0000-0002-3174-1480