Showing results (1-10 of 30) with videos related to
Sort By:
Pageof 3
La Tunisie Medicale|January 28, 2016
Ataxia-telangiectasia in the south of Tunisia: A study of 11 casesLamia Sfaihi, Dominique Stoppa Lyonnet, Salma Ben Ameur, et al.European Journal of Human Genetics : EJHG|November 11, 2011
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutationsVirginie Jacquemin, Guillaume Rieunier, Sandrine Jacob, et al.Pediatric Blood & Cancer|February 23, 2018
Mutiple DICER1-related lesions associated with a germline deep intronic mutationFlorian Verrier, Catherine Dubois d'Enghien, Marion Gauthier-Villars, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemiaMassimo Bogliolo, Dominique Bluteau, James Lespinasse, et al.Human Mutation|December 24, 2008
Fertility defects revealing germline biallelic nonsense NBN mutationsMathilde Warcoin, James Lespinasse, Gilles Despouy, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 10, 2014
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficienciesFelipe Suarez, Nizar Mahlaoui, Danielle Canioni, et al.Clinical Chemistry|December 20, 2021
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCRRoseline Vibert, Marion Gauthier-Villars, Christelle Carrière, et al.Human Mutation|May 2, 2008
Evaluation of in silico splice tools for decision-making in molecular diagnosisClaude Houdayer, Catherine Dehainault, Christophe Mattler, et al.Human Mutation|November 16, 2019
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertilityAlice Fiévet, Dorine Bellanger, Laila Zahed, et al.Pediatric Blood & Cancer|November 11, 2014
Fanconi anemia and solid malignancies in childhood: a national retrospective studyAurore Malric, Anne-Sophie Defachelles, Thierry Leblanc, et al.Pageof 3