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

Georg F Hoffmann

Showing results (351-360 of 381) with videos related to

Pageof 39
Sort By:
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 PatientsBianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.
Journal of Inherited Metabolic Disease|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
American Journal of Human Genetics|April 9, 2013
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduriaBenjamin Nota, Eduard A Struys, Ana Pop, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Pageof 39

Showing results (351-360 of 381) with videos related to

Sort By:
Pageof 39
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 PatientsBianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.
Journal of Inherited Metabolic Disease|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
American Journal of Human Genetics|April 9, 2013
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduriaBenjamin Nota, Eduard A Struys, Ana Pop, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Pageof 39