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Bertrand Isidor

Showing results (321-330 of 340) with videos related to

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Neurology. Genetics|November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
Pageof 34

Showing results (321-330 of 340) with videos related to

Sort By:
Pageof 34
Neurology. Genetics|November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
Pageof 34