Editorial for the IJMS Special Issue on “Molecular Genetics of Autism and Intellectual Disability” حسب Hyung-Goo Kim (728597)

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism حسب Hyung-Goo Kim (728597)

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants حسب J. Graham Theisen (18618646)

مؤلفون آخرون:

Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem Cells حسب Kyung Chul Shin (13913556)

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Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development حسب Jiyoung Lee (41796)

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Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31 حسب Jonathan D. J. Labonne (18090841)

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Identification of two novel autism genes, <i>TRPC4</i> and <i>SCFD2</i>, in Qatar simplex families through exome sequencing حسب Vijay Gupta (209146)

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Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients حسب Julia Doll (5237840)

مؤلفون آخرون:

Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers حسب Houda Yasmine Ali Moussa (16078837)

مؤلفون آخرون:

Single extracellular analysis using flow cytometry for neurological disorder biomarkers حسب Houda Yasmine Ali Moussa (15431071)

مؤلفون آخرون:

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndro... حسب Afif Ben-Mahmoud (13913550)

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Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development حسب Kristin M. Ates (18949450)

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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders حسب Afif Ben-Mahmoud (13913550)

مؤلفون آخرون:

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families حسب Julia Doll (5237840)

مؤلفون آخرون:

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature حسب Richard H. van Jaarsveld (15112408)

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