Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

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Variability in clinical and neuropsychological features of individuals with MAP2K1 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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Variability in clinical and ne ...... viduals with MAP2K1 mutations.

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Variability in clinical and ne ...... viduals with MAP2K1 mutations.

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Item

label

Variability in clinical and ne ...... viduals with MAP2K1 mutations.

@en

Variability in clinical and ne ...... viduals with MAP2K1 mutations.

@nl

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Variability in clinical and ne ...... viduals with MAP2K1 mutations.

@en

Variability in clinical and ne ...... viduals with MAP2K1 mutations.

@nl

P1476

Variability in clinical and ne ...... viduals with MAP2K1 mutations.

@en

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Elizabeth I Pierpont

http://www.w3.org/2001/XMLSchema#string

Margaret Semrud-Clikeman

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Mary Ella Pierpont

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P2860

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

The RASopathies

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Next-generation sequencing identifies rare variants associated with Noonan syndrome

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Autism traits in the RASopathies.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

P304

452-459

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scholarly article

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10.1002/AJMG.A.38044

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English

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173

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P577

2016-11-14T00:00:00Z

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27862862

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P921

neuropsychology