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Vikas Bhambhani

Showing results (11-20 of 23) with videos related to

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Epilepsia|August 23, 2018
SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transportKari A Mattison, Kameryn M Butler, George Andrew S Inglis, et al.
Molecular Genetics and Metabolism|May 9, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defectJulia Wang, Emily Kim, Honzheng Dai, et al.
Neurology|March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.
Neurology|February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
NPJ Genomic Medicine|February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentMarie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Epilepsia|August 23, 2018
SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transportKari A Mattison, Kameryn M Butler, George Andrew S Inglis, et al.
Molecular Genetics and Metabolism|May 9, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defectJulia Wang, Emily Kim, Honzheng Dai, et al.
Neurology|March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.
Neurology|February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Brain : a Journal of Neurology|July 21, 2016
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological declineKatia Hardies, Yiying Cai, Claude Jardel, et al.
NPJ Genomic Medicine|February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentMarie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Pageof 3