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Timothée Revil

Showing results (21-30 of 27) with videos related to

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Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Genes|February 25, 2023
Molecular Genetic Characteristics of <i>FANCI</i>, a Proposed New Ovarian Cancer Predisposing GeneCaitlin T Fierheller, Wejdan M Alenezi, Corinne Serruya, et al.
Cancers|May 14, 2022
The Genetic and Molecular Analyses of <i>RAD51C</i> and <i>RAD51D</i> Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique PopulationWejdan M Alenezi, Larissa Milano, Caitlin T Fierheller, et al.
Journal of Medical Genetics|October 18, 2015
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndromeLeanne de Kock, Yu Chang Wang, Timothée Revil, et al.
Human Mutation|December 16, 2020
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancerPaula S Felicio, Rebeca S Grasel, Natalia Campacci, et al.
The Journal of Clinical Investigation|December 6, 2019
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosisBarbara Rivera, Javad Nadaf, Somayyeh Fahiminiya, et al.
Genome Medicine|December 4, 2021
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing geneCaitlin T Fierheller, Laure Guitton-Sert, Wejdan M Alenezi, et al.
Pageof 3

Showing results (21-30 of 27) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Genes|February 25, 2023
Molecular Genetic Characteristics of <i>FANCI</i>, a Proposed New Ovarian Cancer Predisposing GeneCaitlin T Fierheller, Wejdan M Alenezi, Corinne Serruya, et al.
Cancers|May 14, 2022
The Genetic and Molecular Analyses of <i>RAD51C</i> and <i>RAD51D</i> Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique PopulationWejdan M Alenezi, Larissa Milano, Caitlin T Fierheller, et al.
Journal of Medical Genetics|October 18, 2015
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndromeLeanne de Kock, Yu Chang Wang, Timothée Revil, et al.
Human Mutation|December 16, 2020
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancerPaula S Felicio, Rebeca S Grasel, Natalia Campacci, et al.
The Journal of Clinical Investigation|December 6, 2019
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosisBarbara Rivera, Javad Nadaf, Somayyeh Fahiminiya, et al.
Genome Medicine|December 4, 2021
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing geneCaitlin T Fierheller, Laure Guitton-Sert, Wejdan M Alenezi, et al.
Pageof 3