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H Funke

Showing results (151-160 of 203) with videos related to

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Science (New York, N.Y.)|May 30, 2009
A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolismStéphane Vassilopoulos, Christopher Esk, Sachiko Hoshino, et al.
Clinical Genetics|September 17, 2013
A systematic approach to assessing the clinical significance of genetic variantsH Duzkale, J Shen, H McLaughlin, et al.
Cardiogenetics|September 25, 2013
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variantQuinn S Wells, Natalie L Ausborn, Birgit H Funke, et al.
Atherosclerosis|February 10, 1997
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL geneP Knudsen, M Antikainen, M Uusi-Oukari, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 18, 2006
Evaluation of single nucleotide polymorphisms in the phosphodiesterase 4D gene (PDE4D) and their association with ischaemic stroke in a large German cohortG Kuhlenbäumer, K Berger, A Huge, et al.
The Journal of Clinical Investigation|February 1, 1993
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this diseaseH Funke, A von Eckardstein, P H Pritchard, et al.
Neuroscience Letters|March 6, 1998
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndromeF Stögbauer, P Young, H Wiebusch, et al.
The Journal of Clinical Investigation|December 1, 1995
A unique genetic and biochemical presentation of fish-eye diseaseJ A Kuivenhoven, E J van Voorst tot Voorst, H Wiebusch, et al.
Nature Genetics|August 4, 1999
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1S Rust, M Rosier, H Funke, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 26, 2003
Endothelin-converting enzyme-1 (ECE-1) is a downstream target of the homeobox transcription factor Nkx2-5H Funke-Kaiser, J Lemmer, C V Langsdorff, et al.
Pageof 21

Showing results (151-160 of 203) with videos related to

Sort By:
Pageof 21
Science (New York, N.Y.)|May 30, 2009
A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolismStéphane Vassilopoulos, Christopher Esk, Sachiko Hoshino, et al.
Clinical Genetics|September 17, 2013
A systematic approach to assessing the clinical significance of genetic variantsH Duzkale, J Shen, H McLaughlin, et al.
Cardiogenetics|September 25, 2013
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variantQuinn S Wells, Natalie L Ausborn, Birgit H Funke, et al.
Atherosclerosis|February 10, 1997
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL geneP Knudsen, M Antikainen, M Uusi-Oukari, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 18, 2006
Evaluation of single nucleotide polymorphisms in the phosphodiesterase 4D gene (PDE4D) and their association with ischaemic stroke in a large German cohortG Kuhlenbäumer, K Berger, A Huge, et al.
The Journal of Clinical Investigation|February 1, 1993
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this diseaseH Funke, A von Eckardstein, P H Pritchard, et al.
Neuroscience Letters|March 6, 1998
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndromeF Stögbauer, P Young, H Wiebusch, et al.
The Journal of Clinical Investigation|December 1, 1995
A unique genetic and biochemical presentation of fish-eye diseaseJ A Kuivenhoven, E J van Voorst tot Voorst, H Wiebusch, et al.
Nature Genetics|August 4, 1999
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1S Rust, M Rosier, H Funke, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 26, 2003
Endothelin-converting enzyme-1 (ECE-1) is a downstream target of the homeobox transcription factor Nkx2-5H Funke-Kaiser, J Lemmer, C V Langsdorff, et al.
Pageof 21