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

Lynne Wolfe

Showing results (21-30 of 42) with videos related to

Pageof 5
Sort By:
Journal of Inherited Metabolic Disease|March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage DisorderZoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, 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.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
American Journal of Human Genetics|December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Plos One|March 29, 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsyAmanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage DisorderZoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, 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.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.
American Journal of Human Genetics|December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Plos One|March 29, 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsyAmanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, et al.
Pageof 5