Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature".

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Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype 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年學術文章

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name

Response to: Milosavljevic et ...... and review of the literature".

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Response to: Milosavljevic et ...... and review of the literature".

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type

Item

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Response to: Milosavljevic et ...... and review of the literature".

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Response to: Milosavljevic et ...... and review of the literature".

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Response to: Milosavljevic et ...... and review of the literature".

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Response to: Milosavljevic et ...... and review of the literature".

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P1476

Response to: Milosavljevic et ...... and review of the literature"

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P2093

Anthony Johnson

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Rebecca Carter

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Roopali Donepudi

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Thomas Rowe

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P2860

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Spontaneous resolution of cystic hygroma and hydrops in a fetus with Noonan's syndrome.

Further evidence of the importance of RIT1 in Noonan syndrome.

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

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1992-1993

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scholarly article

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10.1002/AJMG.A.38249

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English

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173

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Blair Stevens

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2017-05-05T00:00:00Z

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28475286

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