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Sophie Nambot

Showing results (1-10 of 74) with videos related to

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European Journal of Human Genetics : EJHG|April 11, 2020
Reply to Hsueh YP et alSophie Nambot, Robert F Hevner, William B Dobyns
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 1, 2022
Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literatureQuentin Thomas, Marie-Catherine Morgant, Sophie Nambot, et al.
American Journal of Medical Genetics. Part A|March 19, 2025
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor PhenotypeMarie Lucain, Antonio Vitobello, Bekim Sadikovic, et al.
European Journal of Medical Genetics|December 26, 2021
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndromeClémentine Legrand, Marine Lebrun, Pierre Naïbo, et al.
Pharmacogenomics|August 31, 2022
Detection of relevant pharmacogenetic information through exome sequencing in oncologySimon Verdez, Juliette Albuisson, Yannis Duffourd, et al.
Kidney International|June 29, 2024
Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of conceptGuillaume Dorval, Gérald Le Gac, Vincent Morinière, et al.
American Journal of Medical Genetics. Part A|January 21, 2022
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2DMylène Tharreau, Aurore Garde, Sandrine Marlin, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Stroke|September 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY projectLoraine Mania-Pâris, Antonio Vitobello, Hana Safraou, et al.
Breast (Edinburgh, Scotland)|September 7, 2024
Real-world prevalence, treatment and survival of "high risk" early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registrySylvain Ladoire, Ariane Mamguem Kamga, Loick Galland, et al.
Pageof 8

Showing results (1-10 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|April 11, 2020
Reply to Hsueh YP et alSophie Nambot, Robert F Hevner, William B Dobyns
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 1, 2022
Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literatureQuentin Thomas, Marie-Catherine Morgant, Sophie Nambot, et al.
American Journal of Medical Genetics. Part A|March 19, 2025
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor PhenotypeMarie Lucain, Antonio Vitobello, Bekim Sadikovic, et al.
European Journal of Medical Genetics|December 26, 2021
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndromeClémentine Legrand, Marine Lebrun, Pierre Naïbo, et al.
Pharmacogenomics|August 31, 2022
Detection of relevant pharmacogenetic information through exome sequencing in oncologySimon Verdez, Juliette Albuisson, Yannis Duffourd, et al.
Kidney International|June 29, 2024
Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of conceptGuillaume Dorval, Gérald Le Gac, Vincent Morinière, et al.
American Journal of Medical Genetics. Part A|January 21, 2022
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2DMylène Tharreau, Aurore Garde, Sandrine Marlin, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Stroke|September 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY projectLoraine Mania-Pâris, Antonio Vitobello, Hana Safraou, et al.
Breast (Edinburgh, Scotland)|September 7, 2024
Real-world prevalence, treatment and survival of "high risk" early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registrySylvain Ladoire, Ariane Mamguem Kamga, Loick Galland, et al.
Pageof 8