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

E C Smith

Showing results (211-220 of 232) with videos related to

Pageof 24
Sort By:
Pediatric Pulmonology|August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variantsDominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Journal of Inherited Metabolic Disease|August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patientsMarisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.
Nucleic Acids Research|November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MSMarisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Nucleic Acids Research|December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivationGautam Kok, Imre F Schene, Eveline F Ilcken, et al.
Blood Advances|August 17, 2022
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR geneTaco W Kuijpers, Andrica C H de Vries, Ester M van Leeuwen, et al.
Molecular Genetics and Metabolism|May 14, 2020
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiencyAna Pop, Desirée E C Smith, Trevor Kirby, et al.
Human Mutation|September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during feverJean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Clinical Genetics|February 18, 2021
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Luise A Schuch, Maria Forstner, Christina K Rapp, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
American Journal of Human Genetics|August 3, 2019
Bi-allelic TARS Mutations Are Associated with Brittle Hair PhenotypeArjan F Theil, Elena Botta, Anja Raams, et al.
Pageof 24

Showing results (211-220 of 232) with videos related to

Sort By:
Pageof 24
Pediatric Pulmonology|August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variantsDominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Journal of Inherited Metabolic Disease|August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patientsMarisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.
Nucleic Acids Research|November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MSMarisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Nucleic Acids Research|December 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivationGautam Kok, Imre F Schene, Eveline F Ilcken, et al.
Blood Advances|August 17, 2022
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR geneTaco W Kuijpers, Andrica C H de Vries, Ester M van Leeuwen, et al.
Molecular Genetics and Metabolism|May 14, 2020
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiencyAna Pop, Desirée E C Smith, Trevor Kirby, et al.
Human Mutation|September 27, 2021
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during feverJean-Marie Ravel, Natacha Dreumont, Pauline Mosca, et al.
Clinical Genetics|February 18, 2021
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Luise A Schuch, Maria Forstner, Christina K Rapp, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
American Journal of Human Genetics|August 3, 2019
Bi-allelic TARS Mutations Are Associated with Brittle Hair PhenotypeArjan F Theil, Elena Botta, Anja Raams, et al.
Pageof 24