Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Sumit Parikh

Showing results (71-80 of 97) with videos related to

Pageof 10
Sort By:
Journal of Inherited Metabolic Disease|October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
Journal of Medical Genetics|June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Pediatric Neurology|June 1, 2019
Severity Assessment in CDKL5 Deficiency DisorderScott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Nature Genetics|June 29, 2023
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cellsCaleb A Lareau, Sonia M Dubois, Frank A Buquicchio, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pageof 10

Showing results (71-80 of 97) with videos related to

Sort By:
Pageof 10
Journal of Inherited Metabolic Disease|October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Elife|August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationVincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
Journal of Medical Genetics|June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Pediatric Neurology|June 1, 2019
Severity Assessment in CDKL5 Deficiency DisorderScott Demarest, Elia M Pestana-Knight, Heather E Olson, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Nature Genetics|June 29, 2023
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cellsCaleb A Lareau, Sonia M Dubois, Frank A Buquicchio, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pageof 10