Výsledky vyhledávání - David A. Dyment
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Genetics of multiple sclerosis Autor David A. Dyment, George C. Ebers, A. Dessa Sadovnick
Vydáno 2004Revisão -
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HLA class I alleles tag <i>HLA-DRB1</i> * <i>1501</i> haplotypes for differential risk in multiple sclerosis susceptibility Autor Michael J. Chao, Martin Barnardo, Matthew R. Lincoln, Sreeram V. Ramagopalan, Blanca Herrera, David A. Dyment, Alexandre Montpetit, A. Dessa Sadovnick, Julian C. Knight, George C. Ebers
Vydáno 2008Artigo -
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Epistasis among<i>HLA-DRB1, HLA-DQA1,</i>and<i>HLA-DQB1</i>loci determines multiple sclerosis susceptibility Autor Matthew R. Lincoln, Sreeram V. Ramagopalan, Michael J. Chao, Blanca Herrera, Gabriele C. DeLuca, Sarah-Michelle Orton, David A. Dyment, A. Dessa Sadovnick, George C. Ebers
Vydáno 2009Artigo -
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Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy Autor Sarah L. Sawyer, Andy Cheuk‐Him Ng, A. Micheil Innes, Justin D. Wagner, David A. Dyment, Martine Tétreault, Jacek Majewski, Kym M. Boycott, Robert A. Screaton, Garth A. Nicholson
Vydáno 2015Artigo -
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Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype Autor Sarah L. Sawyer, Lei Tian, Marketta Kähkönen, Jeremy Schwartzentruber, Martin Kircher, Jacek Majewski, David A. Dyment, A. Micheil Innes, Kym M. Boycott, Lisa A. Moreau, Jukka S. Moilanen, Roger A. Greenberg
Vydáno 2014Artigo -
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A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis Autor Matthew R. Lincoln, Alexandre Montpetit, M. Zameel Cader, Janna Saarela, David A. Dyment, Milvi Tiislar, Vincent Ferretti, Pentti J. Tienari, A. Dessa Sadovnick, Leena Peltonen, George C. Ebers, Thomas J. Hudson
Vydáno 2005Artigo -
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Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis Autor Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, François Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes
Vydáno 2012Artigo -
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Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D Autor Sreeram V Ramagopalan, Narelle Maugeri, Lahiru Handunnetthi, Matthew R. Lincoln, Sarah-Michelle Orton, David A. Dyment, Gabriele C. DeLuca, Blanca Herrera, Michael J. Chao, A. Dessa Sadovnick, George C. Ebers, Julian C. Knight
Vydáno 2009Artigo -
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An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the <i>HLA-DRB1</i> locus Autor Gabriele C. DeLuca, S. V. Ramagopalan, Blanca Herrera, David A. Dyment, Matthew R. Lincoln, Alexandre Montpetit, Maura Pugliatti, Martin Barnardo, Neil Risch, A. Dessa Sadovnick, Melody Chao, Stefano Sotgiu, Thomas J. Hudson, George C. Ebers
Vydáno 2007Artigo -
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De novo substitutions of TRPM3 cause intellectual disability and epilepsy Autor David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines
Vydáno 2019Artigo -
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Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the <i>TYK2</i> gene Autor David A. Dyment, M. Zameel Cader, Michael J. Chao, Matthew R. Lincoln, Katie Morrison, Giulio Disanto, Julia M. Morahan, Gabriele C. DeLuca, A. Dessa Sadovnick, Pierre Lepage, Alexandre Montpetit, George C. Ebers, Sreeram V. Ramagopalan
Vydáno 2012Artigo -
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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations Autor Anindita Basak, Miroslava Hančárová, Jacob C. Ulirsch, Tuğçe B. Balcı, Marie Trková, Michal Pelisek, Markéta Vlčková, Kateřina Mužíková, Jaroslav Čermák, Jan Trka, David A. Dyment, Stuart H. Orkin, Mark J. Daly, Zdeněk Sedláček, Vijay G. Sankaran
Vydáno 2015Artigo -
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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy Autor Jason Vanstone, Amanda M Smith, Skye McBride, Thierry Naas, Martin Holčı́k, Ghadi Antoun, Mary‐Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tétreault, Jacek Majewski, Stephen Baird, Kym M. Boycott, David A. Dyment, Alex MacKenzie, Matthew A. Lines
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Mutation
Phenotype
Internal medicine
Disease
Neuroscience
Pathology
Exome sequencing
Computational biology
Bioinformatics
Epilepsy
Exome
Multiple sclerosis
Allele
Antigen
Genome
Human leukocyte antigen
Immunology
Locus (genetics)
Genotype
Haploinsufficiency
Haplotype
RNA
Endocrinology
Gene expression
Major histocompatibility complex
Missense mutation