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

Frederic Tort

Showing results (41-50 of 47) with videos related to

Pageof 5
Sort By:
You have reached the last page of results.This site can display upto 47 results.
Annals of Neurology|September 4, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions DiseaseAgustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.
Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Annals of Neurology|September 4, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions DiseaseAgustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.
Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
Human Mutation|January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiencyMarcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Pageof 5