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Bertrand Isidor

Showing results (131-140 of 365) with videos related to

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Human Mutation|June 1, 2010
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotypeEric Pasmant, Audrey Sabbagh, Gill Spurlock, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.
British Journal of Haematology|July 25, 2019
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohortCyrielle Fouquet, Marie-Amelyne Le Rouzic, Thierry Leblanc, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Pageof 37

Showing results (131-140 of 365) with videos related to

Sort By:
Pageof 37
Human Mutation|June 1, 2010
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotypeEric Pasmant, Audrey Sabbagh, Gill Spurlock, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlationsJillian M Cameron, Snezana Maljevic, Umesh Nair, et al.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.
British Journal of Haematology|July 25, 2019
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohortCyrielle Fouquet, Marie-Amelyne Le Rouzic, Thierry Leblanc, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Pageof 37