Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.
about
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia.
P2860
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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name
Whole-exome sequencing of a un ...... d midbrain tectal hyperplasia.
@en
Whole-exome sequencing of a un ...... d midbrain tectal hyperplasia.
@nl
type
label
Whole-exome sequencing of a un ...... d midbrain tectal hyperplasia.
@en
Whole-exome sequencing of a un ...... d midbrain tectal hyperplasia.
@nl
prefLabel
Whole-exome sequencing of a un ...... d midbrain tectal hyperplasia.
@en
Whole-exome sequencing of a un ...... d midbrain tectal hyperplasia.
@nl
P2093
P2860
P356
P1433
P1476
Whole-exome sequencing of a un ...... nd midbrain tectal hyperplasia
@en
P2093
Akihisa Okumura
Akira Saito
Hiromichi Shoji
Jun-ichi Takanashi
Keiko Shimojima
Ken Hisata
Masaharu Hayashi
Mitsuru Ikeno
Nobuhiko Okamoto
Tetsuko Kishida
P2860
P304
P356
10.1111/NEUP.12007
P577
2012-12-13T00:00:00Z