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Yline Capri

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Journal of Medical Genetics|March 30, 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.

Journal of Medical Genetics|April 6, 2021

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.

Nature Genetics|May 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.

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Search research articles

Showing results (91-100 of 93) with videos related to

Sort By:

Pageof 10

You have reached the last page of results.This site can display upto 93 results.

Journal of Medical Genetics|March 30, 2019

Journal of Medical Genetics|April 6, 2021

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.

Nature Genetics|May 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.

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