Arama Sonuçları - Samuels, Mark E

Saturation of the Human Phenome Yazar: Samuels, Mark E.

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Ethanol-mediated upregulation of APOA1 gene expression in HepG2 cells is independent of de novo lipid biosynthesis Yazar: Khodja, Youcef, Samuels, Mark E.

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Genetic Mosaics and the Germ Line Lineage Yazar: Samuels, Mark E., Friedman, Jan M.

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Genetics of the patella Yazar: Samuels, Mark E., Campeau, Philippe M.

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Evolution of the patellar sesamoid bone in mammals Yazar: Samuels, Mark E., Regnault, Sophie, Hutchinson, John R.

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Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis Yazar: Magne, Fabien, Serpa, Roman, Van Vliet, Guy, Samuels, Mark E., Deladoëy, Johnny

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Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia Yazar: Samuels, Mark E, te Morsche, Rene HM, Lynch, Mary E, Drenth, Joost PH

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Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-Density SNP Genotype Data Yazar: Jiang, Haiyan, Orr, Andrew, Guernsey, Duane L., Robitaille, Johane, Asselin, Géraldine, Samuels, Mark E., Dubé, Marie-Pierre

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OR22-01 NF-κB Pathway Is Implicated in Thyroid Embryogenesis Yazar: Vanier, Stéphanie Larrivée, Magne, Fabien, Jean-Louis, Martineau, Samuels, Mark E, Van Vliet, Guy, Deladoey, Johnny Yvan

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Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis Yazar: Nada, Dina, Julien, Cédric, Papillon-Cavanagh, Simon, Majewski, Jacek, Elbakry, Mohamed, Elremaly, Wesam, Samuels, Mark E., Moreau, Alain

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Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease Yazar: Bogdanik, Laurent P., Sleigh, James N., Tian, Cong, Samuels, Mark E., Bedard, Karen, Seburn, Kevin L., Burgess, Robert W.

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Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression Yazar: Morales, Carlos R., Grigoryeva, Lubov S., Pan, Xuefang, Bruno, Luigi, Hickson, Gilles, Ngo, Michael H., McMaster, Christopher R., Samuels, Mark E., Pshezhetsky, Alexey V.

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Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic Scoliosis Yazar: Nada, Dina, Julien, Cédric, Rompré, Pierre H., Akoume, Marie-Yvonne, Gorman, Kristen F., Samuels, Mark E., Levy, Emile, Kost, Jason, Li, Dawei, Moreau, Alain

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Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis Yazar: Larrivée-Vanier, Stéphanie, Jean-Louis, Martineau, Magne, Fabien, Bui, Helen, Rouleau, Guy A., Spiegelman, Dan, Samuels, Mark E., Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny

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Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease Yazar: Preuss, Christoph, Capredon, Melanie, Wünnemann, Florian, Chetaille, Philippe, Prince, Andrea, Godard, Beatrice, Leclerc, Severine, Sobreira, Nara, Ling, Hua, Awadalla, Philip, Thibeault, Maryse, Khairy, Paul, Samuels, Mark E., Andelfinger, Gregor

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Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2 Yazar: Guernsey, Duane L., Jiang, Haiyan, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Nightingale, Mathew, Rideout, Andrea L., Provost, Sylvie, Bedard, Karen, Orr, Andrew, Dubé, Marie-Pierre, Ludman, Mark, Samuels, Mark E.

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A generalizable pre-clinical research approach for orphan disease therapy Yazar: Beaulieu, Chandree L, Samuels, Mark E, Ekins, Sean, McMaster, Christopher R, Edwards, Aled M, Krainer, Adrian R, Hicks, Geoffrey G, Frey, Brendan J, Boycott, Kym M, MacKenzie, Alex E

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Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease Yazar: Guernsey, Duane L., Jiang, Haiyan, Bedard, Karen, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Rideout, Andrea L., Orr, Andrew, Ludman, Mark, Skidmore, David L., Benstead, Timothy, Samuels, Mark E.

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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome Yazar: Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François

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Mutations in a novel serine protease PRSS56 in families with nanophthalmos Yazar: Orr, Andrew, Dubé, Marie-Pierre, Zenteno, Juan C., Jiang, Haiyan, Asselin, Geraldine, Evans, Susan C., Caqueret, Aurore, Lakosha, Hesham, Letourneau, Louis, Marcadier, Julien, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Papillon-Cavanagh, Simon, Perry, Scott, Provost, Sylvie, Ludman, Mark, Guernsey, Duane L., Samuels, Mark E.

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