Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

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Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

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Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

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Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

@en

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

@nl

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Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

@en

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

@nl

P1476

Neural tube defects in Waardenburg syndrome: A case report and review of the literature

@en

P2093

Kalpana Miriyala

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P2860

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

A method and server for predicting damaging missense mutations

Waardenburg syndrome associated with meningomyelocele

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Waardenburg syndrome and myelomeningocele in a family.

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Natural history of spina bifida cystica and cranium bifidum cysticum. Major central nervous system malformations in South Wales. IV.

P304

2472-2477

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scholarly article

P356

10.1002/AJMG.A.38325

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P407

English

P433

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P478

173

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P50

Joseph Hart

P577

2017-07-07T00:00:00Z

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P698

28686331

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