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Bertrand Isidor

Showing results (201-210 of 340) with videos related to

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American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Pageof 34

Showing results (201-210 of 340) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
European Journal of Medical Genetics|August 13, 2013
Finger creases lend a hand in Kabuki syndromeCaroline Michot, Carole Corsini, Damien Sanlaville, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Prenatal Diagnosis|August 13, 2024
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disordersChristel Thauvin-Robinet, Aurore Garde, Julian Delanne, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Pageof 34