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Genes|April 3, 2021
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic InfertilityOzlem Okutman, Julien Tarabeux, Jean Muller, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
Mosaicism and prenatal diagnosis options: insights from retinoblastomaCatherine Dehainault, Lisa Golmard, Gaël A Millot, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|April 25, 2024
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female InfertilityÖzlem Okutman, Ali Sami Gürbüz, Ahmet Salvarci, et al.
Frontiers in Immunology|January 6, 2022
Case Report: A New Gain-of-Function Mutation of <i>STAT1</i> Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging AssociationMartin Martinot, Anne Sophie Korganow, Mathieu Wald, et al.
JAMA Neurology|June 19, 2018
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement DisordersSolveig Montaut, Christine Tranchant, Nathalie Drouot, et al.
Methods in Molecular Biology (Clifton, N.J.)|March 7, 2019
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental InvolvementTristan Rey, Julien Tarabeux, Bénédicte Gerard, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a modelJulien Tarabeux, Bruno Zeitouni, Virginie Moncoutier, et al.
International Journal of Cancer|August 29, 2015
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomasElodie Manié, Tatiana Popova, Aude Battistella, et al.
International Journal of Molecular Sciences|May 27, 2023
WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function DefectsAdella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancersLisa Golmard, Laurent Castéra, Sophie Krieger, et al.
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