Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.

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Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.

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2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

@zh-sg

2009年學術文章

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2009年學術文章

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Greig cephalopolysyndactyly sy ...... arative genomic hybridization.

@en

Greig cephalopolysyndactyly sy ...... arative genomic hybridization.

@nl

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label

Greig cephalopolysyndactyly sy ...... arative genomic hybridization.

@en

Greig cephalopolysyndactyly sy ...... arative genomic hybridization.

@nl

prefLabel

Greig cephalopolysyndactyly sy ...... arative genomic hybridization.

@en

Greig cephalopolysyndactyly sy ...... arative genomic hybridization.

@nl

P1476

Greig cephalopolysyndactyly sy ...... parative genomic hybridization

@en

P2093

Ana Monteagudo

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Bassem A Bejjani

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Michael Divon

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Sara Anne Adams

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Sarah Kapp

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P2860

The Greig cephalopolysyndactyly syndrome

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

Pallister-Hall syndrome.

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations.

Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.

P304

1735-1742

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P31

scholarly article

P356

10.7863/JUM.2009.28.12.1735

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P433

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P478

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Ilan E Timor-Tritsch

John Pappas

Robert Berg

P577

2009-12-01T00:00:00Z

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P698

19933491

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