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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Sarah Smithson

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Genome Medicine|May 22, 2021

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.

American Journal of Human Genetics|April 28, 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.

Genetics in Medicine Open|January 17, 2025

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.

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Search research articles

Showing results (51-60 of 53) with videos related to

Sort By:

Pageof 6

You have reached the last page of results.This site can display upto 53 results.

Genome Medicine|May 22, 2021

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.

American Journal of Human Genetics|April 28, 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.

Genetics in Medicine Open|January 17, 2025

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.

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