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

Niels Gregersen

Showing results (81-90 of 161) with videos related to

Pageof 17
Sort By:
American Journal of Physiology. Renal Physiology|October 9, 2009
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidusMia Faerch, Jane H Christensen, Søren Rittig, et al.
Biochimica Et Biophysica Acta|June 20, 2014
Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?Anelise Miotti Tonin, Alexandre Umpierrez Amaral, Estela Natacha Busanello, et al.
Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.
Human Molecular Genetics|May 22, 2012
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiencyNanna Cornelius, Frank E Frerman, Thomas J Corydon, et al.
Molecular Genetics and Metabolism|February 4, 2014
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiencyAnders V Edhager, Vibeke Stenbroen, Nadia Sukusu Nielsen, et al.
Neuroendocrinology|June 28, 2018
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA MissplicingHelene Kvistgaard, Jane H Christensen, Jan-Ove Johansson, et al.
European Journal of Human Genetics : EJHG|December 16, 2003
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesisJane H Christensen, Charlotte Siggaard, Thomas J Corydon, et al.
Biogerontology|June 11, 2004
Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twinsRipudaman Singh, Steen Kølvraa, Peter Bross, et al.
The FEBS Journal|April 12, 2005
Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formationSøren Vang, Thomas J Corydon, Anders D Børglum, et al.
The Journal of Biological Chemistry|September 25, 2003
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiencyChristina Bak Pedersen, Peter Bross, Vibeke Stenbroen Winter, et al.
Pageof 17

Showing results (81-90 of 161) with videos related to

Sort By:
Pageof 17
American Journal of Physiology. Renal Physiology|October 9, 2009
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidusMia Faerch, Jane H Christensen, Søren Rittig, et al.
Biochimica Et Biophysica Acta|June 20, 2014
Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?Anelise Miotti Tonin, Alexandre Umpierrez Amaral, Estela Natacha Busanello, et al.
Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.
Human Molecular Genetics|May 22, 2012
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiencyNanna Cornelius, Frank E Frerman, Thomas J Corydon, et al.
Molecular Genetics and Metabolism|February 4, 2014
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiencyAnders V Edhager, Vibeke Stenbroen, Nadia Sukusu Nielsen, et al.
Neuroendocrinology|June 28, 2018
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA MissplicingHelene Kvistgaard, Jane H Christensen, Jan-Ove Johansson, et al.
European Journal of Human Genetics : EJHG|December 16, 2003
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesisJane H Christensen, Charlotte Siggaard, Thomas J Corydon, et al.
Biogerontology|June 11, 2004
Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twinsRipudaman Singh, Steen Kølvraa, Peter Bross, et al.
The FEBS Journal|April 12, 2005
Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formationSøren Vang, Thomas J Corydon, Anders D Børglum, et al.
The Journal of Biological Chemistry|September 25, 2003
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiencyChristina Bak Pedersen, Peter Bross, Vibeke Stenbroen Winter, et al.
Pageof 17