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Bernard Aral

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Frontiers in Cell and Developmental Biology|March 17, 2023

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.

Journal of Medical Genetics|March 15, 2017

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.

The New England Journal of Medicine|April 30, 2025

Identification of Hepatic-like EPO as a Cause of PolycythemiaLaurent Martin, Darko Maric, Salam Idriss, 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 (31-40 of 34) with videos related to

Sort By:

Pageof 4

You have reached the last page of results.This site can display upto 34 results.

Frontiers in Cell and Developmental Biology|March 17, 2023

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.

Journal of Medical Genetics|March 15, 2017

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, et al.

The New England Journal of Medicine|April 30, 2025

Identification of Hepatic-like EPO as a Cause of PolycythemiaLaurent Martin, Darko Maric, Salam Idriss, 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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