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Jonathan Levy

Showing results (151-160 of 184) with videos related to

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American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Genome Medicine|April 9, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathiesAmandine Santini, Angelo Tognon, Anne-Claire Richard, et al.
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Pageof 19

Showing results (151-160 of 184) with videos related to

Sort By:
Pageof 19
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Genome Medicine|April 9, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathiesAmandine Santini, Angelo Tognon, Anne-Claire Richard, et al.
Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Pageof 19