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Bertrand Isidor

Showing results (61-70 of 365) with videos related to

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Human Mutation|July 28, 2011
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2Bertrand Isidor, Martine Le Merrer, G Ulrich Exner, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2qPiranit N Kantaputra, Eva Klopocki, Bianca P Hennig, et al.
Clinical Genetics|February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated CardiomyopathyLama Alabdi, Benjamin Cogne, Ali S Almasood, et al.
Human Molecular Genetics|November 27, 2018
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityFrancesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Familial autosomal dominant severe ankyloglossia with tooth abnormalitiesAnaëlle Lenormand, Roman Khonsari, Pierre Corre, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Muscle & Nerve|March 27, 2015
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagySandra Mercier, Armelle Magot, Florence Caillon, et al.
Journal of Human Genetics|November 15, 2013
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesionsRaphael Carapito, Nicodème Paul, Meiggie Untrau, et al.
Pageof 37

Showing results (61-70 of 365) with videos related to

Sort By:
Pageof 37
Human Mutation|July 28, 2011
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2Bertrand Isidor, Martine Le Merrer, G Ulrich Exner, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2qPiranit N Kantaputra, Eva Klopocki, Bianca P Hennig, et al.
Clinical Genetics|February 20, 2026
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated CardiomyopathyLama Alabdi, Benjamin Cogne, Ali S Almasood, et al.
Human Molecular Genetics|November 27, 2018
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityFrancesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
Familial autosomal dominant severe ankyloglossia with tooth abnormalitiesAnaëlle Lenormand, Roman Khonsari, Pierre Corre, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
Journal of Neuropathology and Experimental Neurology|November 8, 2016
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionJean-Michel Vallat, Mathilde Nizon, Alex Magee, et al.
Muscle & Nerve|March 27, 2015
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagySandra Mercier, Armelle Magot, Florence Caillon, et al.
Journal of Human Genetics|November 15, 2013
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesionsRaphael Carapito, Nicodème Paul, Meiggie Untrau, et al.
Pageof 37