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Bertrand Isidor

Showing results (211-220 of 340) with videos related to

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Frontiers in Cell and Developmental Biology|March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.
Brain : a Journal of Neurology|July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaHarsha Murthy, Ny Hoang, Jamie C Stark, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
American Journal of Medical Genetics. Part A|November 12, 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patientsClémence Jacquin, Emilie Landais, Céline Poirsier, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
The Journal of Allergy and Clinical Immunology|May 31, 2015
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseasesDirk Holzinger, Selina Kathleen Fassl, Wilco de Jager, et al.
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Pageof 34

Showing results (211-220 of 340) with videos related to

Sort By:
Pageof 34
Frontiers in Cell and Developmental Biology|March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disordersEstelle Colin, Yannis Duffourd, Martin Chevarin, et al.
Brain : a Journal of Neurology|July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaHarsha Murthy, Ny Hoang, Jamie C Stark, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
American Journal of Medical Genetics. Part A|November 12, 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patientsClémence Jacquin, Emilie Landais, Céline Poirsier, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
The Journal of Allergy and Clinical Immunology|May 31, 2015
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseasesDirk Holzinger, Selina Kathleen Fassl, Wilco de Jager, et al.
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Pageof 34