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

A-M Morris

Showing results (111-120 of 127) with videos related to

Pageof 13
Sort By:
Brain : a Journal of Neurology|June 23, 2007
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Simon E Olpin, Brage S Andresen, et al.
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|September 10, 2018
Prioritizing research areas for antibiotic stewardship programmes in hospitals: a behavioural perspective consensus paperM Rzewuska, E Charani, J E Clarkson, et al.
Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.
Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Pageof 13

Showing results (111-120 of 127) with videos related to

Sort By:
Pageof 13
Brain : a Journal of Neurology|June 23, 2007
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Simon E Olpin, Brage S Andresen, et al.
Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|September 10, 2018
Prioritizing research areas for antibiotic stewardship programmes in hospitals: a behavioural perspective consensus paperM Rzewuska, E Charani, J E Clarkson, et al.
Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort studyBerna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, et al.
Journal of Inherited Metabolic Disease|March 28, 2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesPatricia P Jumbo-Lucioni, Kathryn Garber, John Kiel, et al.
Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.
Orphanet Journal of Rare Diseases|December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patientsKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Pageof 13