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Clinical Genetics|May 13, 2023
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxiaFlorence Riant, Lydie Burglen, Michaelle Corpechot, et al.
Cardiology in the Young|June 17, 2014
ELN gene triplication responsible for familial supravalvular aortic aneurysmAnne-Sophie Guemann, Joris Andrieux, Florence Petit, et al.
Clinical Genetics|December 3, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French CohortMarion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, et al.
European Journal of Human Genetics : EJHG|May 10, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literatureFiona Leduc, Perrine Brunelle, Fabienne Escande, et al.
The Journal of Experimental Medicine|April 3, 2019
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGASMatthieu Gratia, Mathieu P Rodero, Cécile Conrad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndromeClémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Clinical Genetics|July 7, 2020
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopeniaJan Hendrik Niemann, Chen Du, Susanne Morlot, et al.
Nature Communications|April 17, 2021
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodiaAki Ushiki, Yichi Zhang, Chenling Xiong, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal ArthrogryposisJérôme Maluenda, Constance Manso, Loic Quevarec, et al.
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