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Clemens R Müller

Showing results (11-20 of 40) with videos related to

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European Journal of Human Genetics : EJHG|May 26, 2016
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotypeMirjam Larsen, Wolfram Kress, Benedikt Schoser, et al.
British Journal of Haematology|August 4, 2004
Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factorsSimone Rost, Andreas Fregin, Dieter Koch, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|August 15, 2006
Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1Simone Rost, Christof Geisen, Andreas Fregin, et al.
Thrombosis and Haemostasis|November 8, 2005
Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarinSimone Rost, Andreas Fregin, Mirja Hünerberg, et al.
Pest Management Science|September 8, 2011
Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculusHans-Joachim Pelz, Simone Rost, Elisabeth Müller, et al.
Neuromuscular Disorders : NMD|December 4, 2015
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermiaStephan Johannsen, Susan Treves, Clemens R Müller, et al.
Anesthesia and Analgesia|February 10, 2010
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core diseaseMirko Vukcevic, Marcus Broman, Gunilla Islander, et al.
Blood|August 29, 2013
Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfacesKatrin J Czogalla, Arijit Biswas, Ann-Christin Wendeln, et al.
The Biochemical Journal|December 24, 2005
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesSylvie Ducreux, Francesco Zorzato, Ana Ferreiro, et al.
European Journal of Cell Biology|April 12, 2005
Emerin expression in early development of Xenopus laevisMartin Gareiss, Kathrin Eberhardt, Eleonora Krüger, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|May 26, 2016
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotypeMirjam Larsen, Wolfram Kress, Benedikt Schoser, et al.
British Journal of Haematology|August 4, 2004
Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factorsSimone Rost, Andreas Fregin, Dieter Koch, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|August 15, 2006
Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1Simone Rost, Christof Geisen, Andreas Fregin, et al.
Thrombosis and Haemostasis|November 8, 2005
Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarinSimone Rost, Andreas Fregin, Mirja Hünerberg, et al.
Pest Management Science|September 8, 2011
Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculusHans-Joachim Pelz, Simone Rost, Elisabeth Müller, et al.
Neuromuscular Disorders : NMD|December 4, 2015
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermiaStephan Johannsen, Susan Treves, Clemens R Müller, et al.
Anesthesia and Analgesia|February 10, 2010
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core diseaseMirko Vukcevic, Marcus Broman, Gunilla Islander, et al.
Blood|August 29, 2013
Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfacesKatrin J Czogalla, Arijit Biswas, Ann-Christin Wendeln, et al.
The Biochemical Journal|December 24, 2005
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesSylvie Ducreux, Francesco Zorzato, Ana Ferreiro, et al.
European Journal of Cell Biology|April 12, 2005
Emerin expression in early development of Xenopus laevisMartin Gareiss, Kathrin Eberhardt, Eleonora Krüger, et al.
Pageof 4