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Bertrand Isidor

Showing results (281-290 of 340) with videos related to

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American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
Pageof 34

Showing results (281-290 of 340) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
Pageof 34