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

T Deufel

Showing results (51-60 of 71) with videos related to

Pageof 8
Sort By:
Nature|February 8, 1990
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2T V McCarthy, J M Healy, J J Heffron, et al.
European Journal of Pediatrics|November 1, 1993
Mutation analysis in the diagnosis of cystic fibrosisT Deufel, H Rabe, T Wieser, et al.
Human Heredity|November 1, 1993
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern EuropeN Gregersen, V Winter, D Curtis, et al.
European Journal of Neurology|October 6, 2007
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegiaJ Schickel, T Pamminger, A Ehrsam, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 24, 2003
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin geneD Bönsch, A Schwindt, P Navratil, et al.
The Journal of Thoracic and Cardiovascular Surgery|December 29, 1999
Predictive value of S-100beta and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgeryD Georgiadis, A Berger, E Kowatschev, et al.
American Journal of Human Genetics|June 1, 1992
Evidence for genetic heterogeneity of malignant hyperthermia susceptibilityT Deufel, A Golla, D Iles, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|December 1, 1995
Resistance to activated protein C (APCR) in children with acute lymphoblastic leukaemia--the need for a prospective multicentre studyU Nowak-Göttl, I Aschka, H G Koch, et al.
Lancet (London, England)|December 9, 1995
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS IK P Zimmer, H Y Naim, H G Koch, et al.
American Journal of Human Genetics|June 1, 1995
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 geneT Deufel, R Sudbrak, Y Feist, et al.
Pageof 8

Showing results (51-60 of 71) with videos related to

Sort By:
Pageof 8
Nature|February 8, 1990
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2T V McCarthy, J M Healy, J J Heffron, et al.
European Journal of Pediatrics|November 1, 1993
Mutation analysis in the diagnosis of cystic fibrosisT Deufel, H Rabe, T Wieser, et al.
Human Heredity|November 1, 1993
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern EuropeN Gregersen, V Winter, D Curtis, et al.
European Journal of Neurology|October 6, 2007
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegiaJ Schickel, T Pamminger, A Ehrsam, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 24, 2003
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin geneD Bönsch, A Schwindt, P Navratil, et al.
The Journal of Thoracic and Cardiovascular Surgery|December 29, 1999
Predictive value of S-100beta and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgeryD Georgiadis, A Berger, E Kowatschev, et al.
American Journal of Human Genetics|June 1, 1992
Evidence for genetic heterogeneity of malignant hyperthermia susceptibilityT Deufel, A Golla, D Iles, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|December 1, 1995
Resistance to activated protein C (APCR) in children with acute lymphoblastic leukaemia--the need for a prospective multicentre studyU Nowak-Göttl, I Aschka, H G Koch, et al.
Lancet (London, England)|December 9, 1995
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS IK P Zimmer, H Y Naim, H G Koch, et al.
American Journal of Human Genetics|June 1, 1995
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 geneT Deufel, R Sudbrak, Y Feist, et al.
Pageof 8