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Bertrand Isidor

Showing results (71-80 of 365) with videos related to

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American Journal of Medical Genetics. Part A|June 9, 2012
Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?Bertrand Isidor, Sylvaine Poignant, Georges Picherot, et al.
Frontiers in Cell and Developmental Biology|July 29, 2024
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?Virginie Vignard, Alban-Elouen Baruteau, Bérénice Toutain, et al.
European Journal of Medical Genetics|December 22, 2022
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathyAdrien Bloch, Guillaume Couture, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
Molecular Syndromology|March 30, 2016
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal DomainLaurianne Le Gloan, Quentin Hauet, Albert David, et al.
The Journal of Clinical Endocrinology and Metabolism|June 18, 2009
Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndromeBertrand Isidor, Carmen Capito, Françoise Paris, et al.
Communications Medicine|May 18, 2026
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reportsMarie Vincent, Soizic Tiriau, Marine Fouillet-Desjonqueres, et al.
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Human Mutation|May 15, 2012
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activityFlavia Guillem, Caroline Kannengiesser, Claire Oudin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2014
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystoniaRaphael Carapito, Nicodème Paul, Meiggie Untrau, et al.
Pageof 37

Showing results (71-80 of 365) with videos related to

Sort By:
Pageof 37
American Journal of Medical Genetics. Part A|June 9, 2012
Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?Bertrand Isidor, Sylvaine Poignant, Georges Picherot, et al.
Frontiers in Cell and Developmental Biology|July 29, 2024
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?Virginie Vignard, Alban-Elouen Baruteau, Bérénice Toutain, et al.
European Journal of Medical Genetics|December 22, 2022
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathyAdrien Bloch, Guillaume Couture, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
Molecular Syndromology|March 30, 2016
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal DomainLaurianne Le Gloan, Quentin Hauet, Albert David, et al.
The Journal of Clinical Endocrinology and Metabolism|June 18, 2009
Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndromeBertrand Isidor, Carmen Capito, Françoise Paris, et al.
Communications Medicine|May 18, 2026
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reportsMarie Vincent, Soizic Tiriau, Marine Fouillet-Desjonqueres, et al.
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Human Mutation|May 15, 2012
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activityFlavia Guillem, Caroline Kannengiesser, Claire Oudin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2014
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystoniaRaphael Carapito, Nicodème Paul, Meiggie Untrau, et al.
Pageof 37