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Genes
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April 3, 2021
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility
Ozlem Okutman, Julien Tarabeux, Jean Muller, et al.
European Journal of Human Genetics : EJHG
|
December 22, 2016
Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Catherine 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 Infertility
Özlem 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 Association
Martin 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 Disorders
Solveig 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 Involvement
Tristan 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 model
Julien Tarabeux, Bruno Zeitouni, Virginie Moncoutier, et al.
International Journal of Cancer
|
August 29, 2015
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas
Elodie 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 Defects
Adella 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 cancers
Lisa Golmard, Laurent Castéra, Sophie Krieger, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Genes
|
April 3, 2021
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility
Ozlem Okutman, Julien Tarabeux, Jean Muller, et al.
European Journal of Human Genetics : EJHG
|
December 22, 2016
Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Catherine 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 Infertility
Özlem 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 Association
Martin 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 Disorders
Solveig 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 Involvement
Tristan 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 model
Julien Tarabeux, Bruno Zeitouni, Virginie Moncoutier, et al.
International Journal of Cancer
|
August 29, 2015
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas
Elodie 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 Defects
Adella 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 cancers
Lisa Golmard, Laurent Castéra, Sophie Krieger, et al.
Page
of 2