De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
about
A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 07 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
De novo missense variants in H ...... elopmental delay and hypotonia
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De novo missense variants in H ...... lopmental delay and hypotonia.
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type
label
De novo missense variants in H ...... elopmental delay and hypotonia
@en
De novo missense variants in H ...... lopmental delay and hypotonia.
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prefLabel
De novo missense variants in H ...... elopmental delay and hypotonia
@en
De novo missense variants in H ...... lopmental delay and hypotonia.
@nl
P2093
P2860
P1476
De novo missense variants in H ...... elopmental delay and hypotonia
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P2093
Carsten G Bönnemann
Christine Eng
Christine Moore
Cynthia J Tifft
Esther R Berko
Fallon Brewer
Francisca Millan
Jessica Waxler
Kyle Retterer
Lynne A Wolfe
P2860
P356
10.1136/JMEDGENET-2016-103943
P407
P577
2016-07-07T00:00:00Z