Publications by authors named "Farah Diab"

2Publications

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.

Authors:
Artem Kim Jérôme Le Douce Farah Diab Monika Ferovova Christèle Dubourg Sylvie Odent Valérie Dupé Véronique David Luis Diambra Erwan Watrin Marie de Tayrac

Brain 2020 07;143(7):2027-2038

Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes)-UMR 6290, F-35000 Rennes, France.

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July 2020

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

Authors:
Ilaria Parenti Farah Diab Sara Ruiz Gil Eskeatnaf Mulugeta Valentina Casa Riccardo Berutti Rutger W W Brouwer Valerie Dupé Juliane Eckhold Elisabeth Graf Beatriz Puisac Feliciano Ramos Thomas Schwarzmayr Macarena Moronta Gines Thomas van Staveren Wilfred F J van IJcken Tim M Strom Juan Pié Erwan Watrin Frank J Kaiser Kerstin S Wendt

Cell Rep 2020 05;31(7):107647

Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address:

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May 2020