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Thomas Besnard

Showing results (61-70 of 72) with videos related to

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Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, 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|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, 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.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, 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|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, 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.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 8