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Thierry Frebourg

Showing results (51-60 of 150) with videos related to

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Journal of Medical Genetics|September 16, 2022
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of <i>MSH2</i> variants causing in-frame splicing alterationsLaëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, et al.
European Journal of Medical Genetics|February 11, 2021
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutationsJuliette Coursimault, François Lecoquierre, Pascale Saugier-Veber, et al.
Neurogenetics|January 7, 2012
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalusMariola Marx, Simone Diestel, Muriel Bozon, et al.
Journal of Medical Genetics|January 24, 2015
Transmission of germline TP53 mutations from male carriers to female partnersSophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, et al.
Annals of Neurology|November 26, 2002
Is the saitohin gene involved in neurodegenerative diseases?Patrice Verpillat, Sylvain Ricard, Didier Hannequin, et al.
Haematologica|February 22, 2008
Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomasFabrice Jardin, Philippe Ruminy, Jean-Pierre Kerckaert, et al.
European Journal of Medical Genetics|September 28, 2019
Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposisFrançois Lecoquierre, Kévin Cassinari, Pascal Chambon, et al.
European Journal of Cancer (Oxford, England : 1990)|August 4, 2018
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutationsEdwige Kasper, Emilie Angot, Elodie Colasse, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|July 11, 2015
Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancerDavid Sefrioui, Nasrin Sarafan-Vasseur, Ludivine Beaussire, et al.
Neurogenetics|April 29, 2014
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcificationGaël Nicolas, Anne-Claire Richard, Cyril Pottier, et al.
Pageof 15

Showing results (51-60 of 150) with videos related to

Sort By:
Pageof 15
Journal of Medical Genetics|September 16, 2022
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of <i>MSH2</i> variants causing in-frame splicing alterationsLaëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, et al.
European Journal of Medical Genetics|February 11, 2021
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutationsJuliette Coursimault, François Lecoquierre, Pascale Saugier-Veber, et al.
Neurogenetics|January 7, 2012
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalusMariola Marx, Simone Diestel, Muriel Bozon, et al.
Journal of Medical Genetics|January 24, 2015
Transmission of germline TP53 mutations from male carriers to female partnersSophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, et al.
Annals of Neurology|November 26, 2002
Is the saitohin gene involved in neurodegenerative diseases?Patrice Verpillat, Sylvain Ricard, Didier Hannequin, et al.
Haematologica|February 22, 2008
Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomasFabrice Jardin, Philippe Ruminy, Jean-Pierre Kerckaert, et al.
European Journal of Medical Genetics|September 28, 2019
Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposisFrançois Lecoquierre, Kévin Cassinari, Pascal Chambon, et al.
European Journal of Cancer (Oxford, England : 1990)|August 4, 2018
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutationsEdwige Kasper, Emilie Angot, Elodie Colasse, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|July 11, 2015
Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancerDavid Sefrioui, Nasrin Sarafan-Vasseur, Ludivine Beaussire, et al.
Neurogenetics|April 29, 2014
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcificationGaël Nicolas, Anne-Claire Richard, Cyril Pottier, et al.
Pageof 15