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H Funke

Showing results (161-170 of 203) with videos related to

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The Netherlands Journal of Medicine|November 1, 1996
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiencyS M Bijvoet, H Wiebusch, Y Ma, et al.
The New England Journal of Medicine|August 18, 2016
Genetic Misdiagnoses and the Potential for Health DisparitiesArjun K Manrai, Birgit H Funke, Heidi L Rehm, et al.
Molecular Medicine (Cambridge, Mass.)|July 12, 2007
Analysis of TBX1 variation in patients with psychotic and affective disordersBirgit H Funke, Todd Lencz, Christine T Finn, et al.
Angewandte Chemie (International Ed. in English)|October 18, 2018
Low Heat of Adsorption of Ethylene Achieved by Major Solid-State Structural Rearrangement of a Discrete Copper(I) ComplexNaleen B Jayaratna, Matthew G Cowan, Devaborniny Parasar, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|May 14, 1999
Effects of a frequent apolipoprotein E isoform, ApoE4Freiburg (Leu28-->Pro), on lipoproteins and the prevalence of coronary artery disease in whitesM Orth, W Weng, H Funke, et al.
Molecular Genetics & Genomic Medicine|April 12, 2016
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathiesOzge Ceyhan-Birsoy, Trevor J Pugh, Mark J Bowser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretationAhmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, et al.
Genetic Testing|March 31, 2007
A novel, single nucleotide polymorphism-based assay to detect 22q11 deletionsBirgit H Funke, Alison C Brown, Marco F Ramoni, et al.
Circulation|March 23, 1999
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrenceM Berthet, I Denjoy, C Donger, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2014
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana Mandelker, Sami S Amr, Trevor Pugh, et al.
Pageof 21

Showing results (161-170 of 203) with videos related to

Sort By:
Pageof 21
The Netherlands Journal of Medicine|November 1, 1996
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiencyS M Bijvoet, H Wiebusch, Y Ma, et al.
The New England Journal of Medicine|August 18, 2016
Genetic Misdiagnoses and the Potential for Health DisparitiesArjun K Manrai, Birgit H Funke, Heidi L Rehm, et al.
Molecular Medicine (Cambridge, Mass.)|July 12, 2007
Analysis of TBX1 variation in patients with psychotic and affective disordersBirgit H Funke, Todd Lencz, Christine T Finn, et al.
Angewandte Chemie (International Ed. in English)|October 18, 2018
Low Heat of Adsorption of Ethylene Achieved by Major Solid-State Structural Rearrangement of a Discrete Copper(I) ComplexNaleen B Jayaratna, Matthew G Cowan, Devaborniny Parasar, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|May 14, 1999
Effects of a frequent apolipoprotein E isoform, ApoE4Freiburg (Leu28-->Pro), on lipoproteins and the prevalence of coronary artery disease in whitesM Orth, W Weng, H Funke, et al.
Molecular Genetics & Genomic Medicine|April 12, 2016
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathiesOzge Ceyhan-Birsoy, Trevor J Pugh, Mark J Bowser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretationAhmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, et al.
Genetic Testing|March 31, 2007
A novel, single nucleotide polymorphism-based assay to detect 22q11 deletionsBirgit H Funke, Alison C Brown, Marco F Ramoni, et al.
Circulation|March 23, 1999
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrenceM Berthet, I Denjoy, C Donger, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2014
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana Mandelker, Sami S Amr, Trevor Pugh, et al.
Pageof 21