A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
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Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Taking Stock of the Drosophila Research EcosystemLessons learned from additional research analyses of unsolved clinical exome cases.Integrated Computational Analysis of Genes Associated with Human Hereditary Insensitivity to Pain. A Drug Repurposing Perspective.Building dialogues between clinical and biomedical research through cross-species collaborations.MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Identification of genes expressed in a mesenchymal subset regulating prostate organogenesis using tissue and single cell transcriptomics.Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.Zfp423/ZNF423 regulates cell cycle progression, the mode of cell division and the DNA-damage response in Purkinje neuron progenitors.Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.A gene-specific T2A-GAL4 library for Drosophila.IRF2BPL Is Associated with Neurological PhenotypesFunctional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderRecent Developments in Using as a Model for Human Genetic Disease
P2860
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P2860
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
description
2017 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2017
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im Januar 2017 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2017/01/05)
@nl
наукова стаття, опублікована в січні 2017
@uk
مقالة علمية (نشرت في 5-1-2017)
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name
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
@en
type
label
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
@ast
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
@en
prefLabel
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
@ast
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
@en
P2093
P2860
P50
P921
P1476
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
@en
P2093
Alexandra J. McCarty
Camilo Toro
Cynthia Tifft
David R. Adams
Elizabeth Burke
Hsiao-Tuan Chao
Jill A. Rosenfeld
Lynne Wolfe
Mariska Davids
P2860
P304
P356
10.1016/J.AJHG.2016.11.018
P407
P577
2017-01-05T00:00:00Z