Výsledky vyhledávání - Michael A. Simpson
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The future of genomics for developmentalists Autor Robert Plomin, Michael A. Simpson
Vydáno 2013Revisão -
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Psoriasis and Genetics Autor Nick Dand, Satveer K. Mahil, Francesca Capon, Catherine Smith, Michael A. Simpson, Juliet N. Barker
Vydáno 2020Revisão -
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Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa) Autor Andrew Pink, Michael A. Simpson, Nemesha Desai, Dimitra Dafou, Alison Hills, Peter Mortimer, Catherine Smith, Richard C. Trembath, Juliet N. Barker
Vydáno 2012Carta -
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Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia Autor Michael A. Simpson, J. Helen Cross, Christos Proukakis, Anna Pryde, R. Jane Hershberger, Arnaud Chatonnet, Michael A. Patton, Andrew H. Crosby
Vydáno 2003Artigo -
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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype Autor Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery
Vydáno 2011Artigo -
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A genome-wide association study for extremely high intelligence Autor Delilah Zabaneh, Eva Krapohl, Héléna A. Gaspar, Charles Curtis, Sang Lee, Hamel Patel, Stephen Newhouse, Hao Wu, Michael A. Simpson, Martha Putallaz, David Lubinski, Robert Plomin, Gerome Breen
Vydáno 2017Artigo -
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Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders Autor Vincenzo Leo, Neil V. Morgan, Danai Bem, Matthew L. Jones, Gillian Lowe, Marie Lordkipanidzé, Sian Drake, Michael A. Simpson, Paul Gissen, Andrew Mumford, Steve P. Watson, Mary E. Daly
Vydáno 2014Artigo -
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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome Autor Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances Elmslie, Muriel Holder‐Espinasse, Melita Irving, Anand Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson
Vydáno 2012Artigo -
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Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema Autor Kristiana Gordon, Dörte Schulte, Glen Brice, Michael A. Simpson, M. Guy Roukens, Andreas van Impel, Fiona Connell, Kamini Kalidas, Steve Jeffery, Peter Mortimer, Sahar Mansour, Stefan Schulte‐Merker, Pia Østergaard
Vydáno 2013Artigo -
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Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes Autor Katja Christodoulou, Anthony E. Wiskin, Jane Whitney Gibson, William Tapper, Claire Willis, Nadeem Afzal, Rosanna Upstill‐Goddard, John W. Holloway, Michael A. Simpson, R. Mark Beattie, Andrew Collins, Sarah Ennis
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Internal medicine
Mutation
Disease
Immunology
Genotype
Phenotype
Single-nucleotide polymorphism
Exome sequencing
Genome-wide association study
Pathology
Psoriasis
Dermatology
Cancer research
Exome
Bioinformatics
Computational biology
Endocrinology
Genetic association
Allele
Cell biology
Neuroscience
Acne
Cancer
Chemistry
DNA sequencing
Environmental health