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

F Hoffmann

Showing results (951-960 of 1,073) with videos related to

Pageof 108
Sort By:
Nucleic Acids Research|November 13, 2012
SynSysNet: integration of experimental data on synaptic protein-protein interactions with drug-target relationsJoachim von Eichborn, Mathias Dunkel, Björn O Gohlke, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|February 14, 2026
Hedera helix-derived α-hederin (IVL-11) demonstrates both ex vivo and in vivo flukicidal activities against Fasciola hepaticaSarah D Davey, Anand Chakroborty, Joseph Payne, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendationsStefan Kölker, Ernst Christensen, James V Leonard, et al.
Annals of Neurology|January 23, 1999
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?M S van der Knaap, C Jakobs, G F Hoffmann, et al.
Aging|November 8, 2015
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibitionClemens Stockklausner, Simon Raffel, Julia Klermund, et al.
Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|January 5, 2007
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)S Kölker, E Christensen, J V Leonard, et al.
Pageof 108

Showing results (951-960 of 1,073) with videos related to

Sort By:
Pageof 108
Nucleic Acids Research|November 13, 2012
SynSysNet: integration of experimental data on synaptic protein-protein interactions with drug-target relationsJoachim von Eichborn, Mathias Dunkel, Björn O Gohlke, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|February 14, 2026
Hedera helix-derived α-hederin (IVL-11) demonstrates both ex vivo and in vivo flukicidal activities against Fasciola hepaticaSarah D Davey, Anand Chakroborty, Joseph Payne, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendationsStefan Kölker, Ernst Christensen, James V Leonard, et al.
Annals of Neurology|January 23, 1999
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?M S van der Knaap, C Jakobs, G F Hoffmann, et al.
Aging|November 8, 2015
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibitionClemens Stockklausner, Simon Raffel, Julia Klermund, et al.
Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|January 5, 2007
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)S Kölker, E Christensen, J V Leonard, et al.
Pageof 108