(Q58024956)

1

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Alena Puchmajerova

2

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Petr Hecht

3

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Marie Trkova

5

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Anna Krepelova

American Journal of Medical Genetics

6

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language of work or name

English

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publication date

23 January 2014

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published in

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volume

164

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issue

5

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page(s)

1218-1221

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cites work

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

RASopathies: Clinical Diagnosis in the First Year of Life

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Noonan-like syndrome with loose anagen hair: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Costello syndrome and related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

The cardiofaciocutaneous syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Noonan syndrome: clinical features, diagnosis, and management guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Clinical and molecular analysis of RASopathies in a group of Turkish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404

Noonan syndrome: clinical aspects and molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36404