Gillespie syndrome: additional findings and parental consanguinity.
about
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeRecessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Esophageal dysmotility in gillespie syndrome.Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
P2860
Gillespie syndrome: additional findings and parental consanguinity.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
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2007年學術文章
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2007年學術文章
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name
Gillespie syndrome: additional findings and parental consanguinity.
@en
Gillespie syndrome: additional findings and parental consanguinity.
@nl
type
label
Gillespie syndrome: additional findings and parental consanguinity.
@en
Gillespie syndrome: additional findings and parental consanguinity.
@nl
prefLabel
Gillespie syndrome: additional findings and parental consanguinity.
@en
Gillespie syndrome: additional findings and parental consanguinity.
@nl
P2093
P2860
P1433
P1476
Gillespie syndrome: additional findings and parental consanguinity.
@en
P2093
Daniela Varela Luquetti
Ruy Pires Oliveira-Sobrinho
Vera Lúcia Gil-da-Silva-Lopes
P2860
P356
10.1080/13816810701209495
P577
2007-06-01T00:00:00Z