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Sumit Parikh

Showing results (91-100 of 97) with videos related to

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Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Neurology|January 30, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional SurveyAlina Ivaniuk, Irina A Anselm, Aaron Bowen, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
Pageof 10

Showing results (91-100 of 97) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 97 results.
Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.
Neurology|January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort StudyPiervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2021
DLG4-related synaptopathy: a new rare brain disorderAgustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Neurology|January 30, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional SurveyAlina Ivaniuk, Irina A Anselm, Aaron Bowen, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
Pageof 10