Resultats de la cerca - Michael A. Simpson

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  1. 1
    The Phenomenology of Self-Mutilation in a General Hospital Setting*

    The Phenomenology of Self-Mutilation in a General Hospital Setting* per Michael A. Simpson

    Publicat 1975
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  2. 2
    The future of genomics for developmentalists

    The future of genomics for developmentalists per Robert Plomin, Michael A. Simpson

    Publicat 2013
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  3. 3
    Predicting the functional consequences of non-synonymous DNA sequence variants — evaluation of bioinformatics tools and development of a consensus strategy

    Predicting the functional consequences of non-synonymous DNA sequence variants — evaluation of bioinformatics tools and development of a consensus strategy per Kimon Frousios, Costas S. Iliopoulos, Thomas Schlitt, Michael A. Simpson

    Publicat 2013
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  4. 4
    γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis

    γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis per Andrew Pink, Michael A. Simpson, Nemesha Desai, Richard C. Trembath, Juliet N. Barker

    Publicat 2012
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  5. 5
    Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis

    Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis per Christos Tziotzios, Catherine M. Stefanato, David A. Fenton, Michael A. Simpson, John A. McGrath

    Publicat 2016
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  6. 6
    Psoriasis and Genetics

    Psoriasis and Genetics per Nick Dand, Satveer K. Mahil, Francesca Capon, Catherine Smith, Michael A. Simpson, Juliet N. Barker

    Publicat 2020
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  7. 7
    PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa)

    PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa) per Andrew Pink, Michael A. Simpson, Glen Brice, Catherine Smith, Nemesha Desai, Peter Mortimer, Juliet N. Barker, Richard C. Trembath

    Publicat 2011
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  8. 8
    A Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects

    A Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects per Oliver S. P. Davis, Lee M Butcher, Sophia Docherty, Emma L. Meaburn, Charles Curtis, Michael A. Simpson, Leonard C. Schalkwyk, Robert Plomin

    Publicat 2010
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  9. 9
    Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)

    Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa) per Andrew Pink, Michael A. Simpson, Nemesha Desai, Dimitra Dafou, Alison Hills, Peter Mortimer, Catherine Smith, Richard C. Trembath, Juliet N. Barker

    Publicat 2012
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  10. 10
    Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

    Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia per Michael A. Simpson, J. Helen Cross, Christos Proukakis, Anna Pryde, R. Jane Hershberger, Arnaud Chatonnet, Michael A. Patton, Andrew H. Crosby

    Publicat 2003
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  11. 11
    Importance of Variant Interpretation in Whole-Exome Molecular Autopsy

    Importance of Variant Interpretation in Whole-Exome Molecular Autopsy per Garrett W. Shanks, David J. Tester, Jaeger P. Ackerman, Michael A. Simpson, Elijah R. Behr, Steven M. White, Michael J. Ackerman

    Publicat 2018
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  12. 12
    Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

    Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome per Mary Jane Gray, Chong Ae Kim, Débora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Michael A. Simpson, Melita Irving, Stephen P. Robertson

    Publicat 2011
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  13. 13
    Mutation in GNE is associated with severe congenital thrombocytopenia

    Mutation in GNE is associated with severe congenital thrombocytopenia per Jane Wong Fütterer, Amanda Dalby, Gillian Lowe, Ben Johnson, Michael A. Simpson, Jayashree Motwani, Mike Williams, Steve P. Watson, Neil V. Morgan

    Publicat 2018
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  14. 14
    Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

    Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy per Mark Norman, Michael A. Simpson, Jens Mogensen, A.O. Shaw, Siân Hughes, Petros Syrris, Srijita Sen‐Chowdhry, Edward Rowland, Andrew H. Crosby, William J. McKenna

    Publicat 2005
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  15. 15
    Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

    Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype per 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

    Publicat 2011
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  16. 16
    A genome-wide association study for extremely high intelligence

    A genome-wide association study for extremely high intelligence per 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

    Publicat 2017
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  17. 17
    Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

    Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders per 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

    Publicat 2014
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  18. 18
    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome per 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

    Publicat 2012
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  19. 19
    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

    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 per 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

    Publicat 2013
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  20. 20
    Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

    Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes per 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

    Publicat 2012
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