An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
about
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approachRecurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.Perturbed proteostasis in autism spectrum disorders.
P2860
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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name
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@en
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@nl
type
label
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@en
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@nl
prefLabel
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@en
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@nl
P2093
P2860
P356
P1476
An Xp22.12 microduplication in ...... l and behavioral disabilities.
@en
P2093
Ayumi Matsumoto
Eriko F Jimbo
Karin Kojima
Kunio Miyake
Mari Kuwajima
Mariko Y Momoi
Naomi Nakashima
Takanori Yamagata
Takeo Kubota
P2860
P2888
P304
P356
10.1038/JHG.2013.88
P577
2013-08-29T00:00:00Z
P6179
1016088375