Speech and language in a genotyped cohort of individuals with Kabuki syndrome
about
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairmentA novel KMT2D mutation resulting in Kabuki syndrome: A case report.Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Neurobehavioral features in individuals with Kabuki syndrome.
P2860
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
description
im März 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 08 March 2015
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2015
@uk
name
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@en
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@nl
type
label
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@en
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@nl
prefLabel
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@en
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@nl
P2093
P2860
P50
P356
P1476
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
@en
P2093
Annette Da Costa
Damien Lederer
Joanne Fifer
Kati J Buckingham
Margaret J McMillin
Michael J Bamshad
Valérie Benoit
P2860
P304
P356
10.1002/AJMG.A.37026
P407
P577
2015-03-08T00:00:00Z