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Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations

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Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations (English)

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Biesecker LG

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1 October 2005

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Europe PubMed Central

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68

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320-326

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1038/NATURE01629

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10.1111/J.1399-0004.2005.00509.X

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24 July 2017

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16143016

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24 July 2017

(Q33222840)

Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations

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