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Thomas Besnard

Showing results (31-40 of 72) with videos related to

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Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
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.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
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.
American Journal of Human Genetics|January 6, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
Pageof 8

Showing results (31-40 of 72) with videos related to

Sort By:
Pageof 8
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
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.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
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.
American Journal of Human Genetics|January 6, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
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