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Showing results (191-200 of 198) with videos related to

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Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Neurology|February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled TrialUtkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Pageof 20

Showing results (191-200 of 198) with videos related to

Sort By:
Pageof 20
You have reached the last page of results.This site can display upto 198 results.
Brain : a Journal of Neurology|June 30, 2022
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersNataliya Di Donato, Renzo Guerrini, Charles J Billington, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Neurology|February 9, 2024
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled TrialUtkarsh J Dang, Jesse M Damsker, Michela Guglieri, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
Pageof 20