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Human Mutation
|
December 24, 2008
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy
Christoph S Clemen, Dirk Fischer, Jens Reimann, et al.
Thrombosis and Haemostasis
|
November 8, 2005
VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation
Christof Geisen, Matthias Watzka, Katja Sittinger, et al.
The Journal of Biological Chemistry
|
March 4, 2011
Human vitamin K 2,3-epoxide reductase complex subunit 1-like 1 (VKORC1L1) mediates vitamin K-dependent intracellular antioxidant function
Philipp Westhofen, Matthias Watzka, Milka Marinova, et al.
Human Molecular Genetics
|
February 5, 2003
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor
Francesco Zorzato, Naohiro Yamaguchi, Le Xu, et al.
European Journal of Human Genetics : EJHG
|
July 29, 2010
A standardized framework for the validation and verification of clinical molecular genetic tests
Christopher J Mattocks, Michael A Morris, Gert Matthijs, et al.
BMC Cell Biology
|
April 1, 2004
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation
Beate Reichart, Ruth Klafke, Christine Dreger, et al.
BMC Genetics
|
February 10, 2009
Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?
Simone Rost, Hans-Joachim Pelz, Sandra Menzel, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2014
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Mirjam Larsen, Simone Rost, Nady El Hajj, et al.
European Journal of Human Genetics : EJHG
|
May 30, 2013
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
Simone Rost, Elisa Bach, Cordula Neuner, et al.
Genetics
|
May 10, 2005
The genetic basis of resistance to anticoagulants in rodents
Hans-Joachim Pelz, Simone Rost, Mirja Hünerberg, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 40) with videos related to
Sort By:
Page
of 4
Human Mutation
|
December 24, 2008
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy
Christoph S Clemen, Dirk Fischer, Jens Reimann, et al.
Thrombosis and Haemostasis
|
November 8, 2005
VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation
Christof Geisen, Matthias Watzka, Katja Sittinger, et al.
The Journal of Biological Chemistry
|
March 4, 2011
Human vitamin K 2,3-epoxide reductase complex subunit 1-like 1 (VKORC1L1) mediates vitamin K-dependent intracellular antioxidant function
Philipp Westhofen, Matthias Watzka, Milka Marinova, et al.
Human Molecular Genetics
|
February 5, 2003
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor
Francesco Zorzato, Naohiro Yamaguchi, Le Xu, et al.
European Journal of Human Genetics : EJHG
|
July 29, 2010
A standardized framework for the validation and verification of clinical molecular genetic tests
Christopher J Mattocks, Michael A Morris, Gert Matthijs, et al.
BMC Cell Biology
|
April 1, 2004
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation
Beate Reichart, Ruth Klafke, Christine Dreger, et al.
BMC Genetics
|
February 10, 2009
Novel mutations in the VKORC1 gene of wild rats and mice--a response to 50 years of selection pressure by warfarin?
Simone Rost, Hans-Joachim Pelz, Sandra Menzel, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2014
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Mirjam Larsen, Simone Rost, Nady El Hajj, et al.
European Journal of Human Genetics : EJHG
|
May 30, 2013
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
Simone Rost, Elisa Bach, Cordula Neuner, et al.
Genetics
|
May 10, 2005
The genetic basis of resistance to anticoagulants in rodents
Hans-Joachim Pelz, Simone Rost, Mirja Hünerberg, et al.
Page
of 4