Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Item
http://www.wikidata.org/entity/Q35114052
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.Simpson-Golabi-Behmel syndrome types I and II.Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practiceSingle gene disorders associated with congenital diaphragmatic hernia.Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.HSPG modulation of BMP signaling in fibrodysplasia ossificans progressiva cells.A phenotypic comparison of intervertebral disc and articular cartilage cells in the rat.Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.Genetic analysis of tall stature.Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.The Human Obesity Gene Map: The 2004 UpdateNovel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome
P2860

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Item
http://www.wikidata.org/entity/Q35114052
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年論文
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2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
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name
Genotype/phenotype correlation ...... and review of the literature.
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Genotype/phenotype correlation ...... and review of the literature.
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type
label
Genotype/phenotype correlation ...... and review of the literature.
@ast
Genotype/phenotype correlation ...... and review of the literature.
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prefLabel
Genotype/phenotype correlation ...... and review of the literature.
@ast
Genotype/phenotype correlation ...... and review of the literature.
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P1476
P2093
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P1433
P1476
Genotype/phenotype correlation ...... t and review of the literature
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P2093
P2860
P304
P31
P356
10.1515/JPEM.2003.16.2.225
P433
P478
P50
P577
P698