Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

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Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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name

Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

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Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

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Item

label

Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

@en

Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

@nl

prefLabel

Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

@en

Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

@nl

P1476

Mutation Spectrum and Phenotyp ...... nition of Two Novel Mutations.

@en

P2093

Ajlan Tukun

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Ayca Aykut

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Damla Goksen

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Ferda Ozkinay

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Filiz Hazan

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Huseyin Onay

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Sukran Darcan

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Tahir Atik

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P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

A method and server for predicting damaging missense mutations

MutationTaster evaluates disease-causing potential of sequence alterations

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Noonan syndrome: a review.

Genotype-phenotype correlations in Noonan syndrome.

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s12098-015-1998-6

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517-521

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10.1007/S12098-015-1998-6

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2016-01-28T00:00:00Z

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292154248

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26817465

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