(Q57751703)

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A clinician's plea

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scholarly article

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A clinician's plea (English)

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Judith Goslin Hall

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Judith G. Hall

1

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publication date

April 2003

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Nature Genetics

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33

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4

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440-442

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https://scigraph.springernature.com/pub.10.1038/ng0403-440

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in SOX2 cause anophthalmia

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutant dynactin in motor neuron disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism

1 reference

https://api.crossref.org/works/10.1038%2FNG0403-440

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG0403-440

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