Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
about
A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Genetics of Short Stature.A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
P2860
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
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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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@en
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@nl
type
label
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@en
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@nl
prefLabel
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@en
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@nl
P2093
P2860
P50
P356
P1476
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
@en
P2093
Andreas Zankl
André Mégarbané
Annemarie H van der Hout
Bronwyn Kerr
Carlo Marcelis
Edward S Tobias
Esther Kinning
Linda Goodwin
Marleen E H Simon
Martine Le Merrer
P2860
P304
P356
10.1002/AJMG.C.31332
P577
2012-07-12T00:00:00Z