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Cathy A Stevens

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American Journal of Human Genetics|January 20, 2022

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.

American Journal of Medical Genetics. Part A|March 30, 2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.

The Journal of Clinical Endocrinology and Metabolism|October 2, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.

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Search research articles

Showing results (41-50 of 43) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 43 results.

American Journal of Human Genetics|January 20, 2022

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.

American Journal of Medical Genetics. Part A|March 30, 2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.

The Journal of Clinical Endocrinology and Metabolism|October 2, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.

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