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Mark E Samuels

Showing results (21-30 of 56) with videos related to

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European Journal of Human Genetics : EJHG|August 13, 2002
A genome scan for loci influencing anti-atherogenic serum bilirubin levelsFlorian Kronenberg, Hilary Coon, Alexander Gutin, et al.
Scientific Reports|April 7, 2019
Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic ScoliosisDina Nada, Cédric Julien, Pierre H Rompré, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of <i>UBIAD1</i> gene expressionCarlos R Morales, Lubov S Grigoryeva, Xuefang Pan, et al.
Thyroid : Official Journal of the American Thyroid Association|March 11, 2022
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid DysgenesisStéphanie Larrivée-Vanier, Martineau Jean-Louis, Fabien Magne, et al.
Human Genetics|January 17, 2004
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigreeKirsten M Timms, Susanne Wagner, Mark E Samuels, et al.
Plos Genetics|October 21, 2016
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseChristoph Preuss, Melanie Capredon, Florian Wünnemann, et al.
Orphanet Journal of Rare Diseases|June 19, 2012
A generalizable pre-clinical research approach for orphan disease therapyChandree L Beaulieu, Mark E Samuels, Sean Ekins, et al.
Brain : a Journal of Neurology|December 1, 2010
A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaPaul N Valdmanis, Nicolas Dupré, Mathieu Lachance, et al.
American Journal of Human Genetics|July 7, 2009
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2Duane L Guernsey, Haiyan Jiang, Susan C Evans, et al.
Plos Genetics|September 25, 2010
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseDuane L Guernsey, Haiyan Jiang, Karen Bedard, et al.
Pageof 6

Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
European Journal of Human Genetics : EJHG|August 13, 2002
A genome scan for loci influencing anti-atherogenic serum bilirubin levelsFlorian Kronenberg, Hilary Coon, Alexander Gutin, et al.
Scientific Reports|April 7, 2019
Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic ScoliosisDina Nada, Cédric Julien, Pierre H Rompré, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of <i>UBIAD1</i> gene expressionCarlos R Morales, Lubov S Grigoryeva, Xuefang Pan, et al.
Thyroid : Official Journal of the American Thyroid Association|March 11, 2022
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid DysgenesisStéphanie Larrivée-Vanier, Martineau Jean-Louis, Fabien Magne, et al.
Human Genetics|January 17, 2004
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigreeKirsten M Timms, Susanne Wagner, Mark E Samuels, et al.
Plos Genetics|October 21, 2016
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseChristoph Preuss, Melanie Capredon, Florian Wünnemann, et al.
Orphanet Journal of Rare Diseases|June 19, 2012
A generalizable pre-clinical research approach for orphan disease therapyChandree L Beaulieu, Mark E Samuels, Sean Ekins, et al.
Brain : a Journal of Neurology|December 1, 2010
A mutation in the RNF170 gene causes autosomal dominant sensory ataxiaPaul N Valdmanis, Nicolas Dupré, Mathieu Lachance, et al.
American Journal of Human Genetics|July 7, 2009
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2Duane L Guernsey, Haiyan Jiang, Susan C Evans, et al.
Plos Genetics|September 25, 2010
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseDuane L Guernsey, Haiyan Jiang, Karen Bedard, et al.
Pageof 6