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Mathilde Nizon

Showing results (111-120 of 120) with videos related to

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Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, 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.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Medrxiv : the Preprint Server for Health Sciences|March 11, 2026
Clinical, <i>in vitro,</i> and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.
American Journal of Human Genetics|July 10, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, 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.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Pageof 12

Showing results (111-120 of 120) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 120 results.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, 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.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Medrxiv : the Preprint Server for Health Sciences|March 11, 2026
Clinical, <i>in vitro,</i> and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, et al.
American Journal of Human Genetics|July 10, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorderPhilip M Boone, Serkan Erdin, Abucar Mohamed, 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.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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