Search Results - Neil V. Morgan
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Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma by Michael S. Wiesener, Melchior Seyfarth, Christina Warnecke, Jan Steffen Jürgensen, Christian Rosenberger, Neil V. Morgan, Eamonn R. Maher, Ulrich Frei, Kai‐Uwe Eckardt
Published 2002Artigo -
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Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients by Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher
Published 2008Artigo -
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Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa by A. J. Tipping, Tommy Pearson, Neil V. Morgan, Rachel A. Gibson, L. P. Kuyt, Charmaine Havenga, Éliane Gluckman, Hans Joenje, Thomy de Ravel, S Jansen, Christopher G. Mathew
Published 2001Artigo -
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Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders by 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
Published 2014Artigo -
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STAT2 deficiency and susceptibility to viral illness in humans by Sophie Hambleton, Stephen Goodbourn, D. F. Young, Paul Dickinson, Siti Mardhiana Mohamad, Manoj Valappil, Naomi McGovern, Andrew J. Cant, Scott Hackett, Peter Ghazal, Neil V. Morgan, Richard E. Randall
Published 2013Artigo -
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The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity by Rune Busk Damgaard, Jennifer A. Walker, Paola Marco‐Casanova, Neil V. Morgan, Hannah Titheradge, P.R. Elliott, Duncan McHale, Eamonn R. Maher, Andrew N. J. McKenzie, David Komander
Published 2016Artigo -
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Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A by Hans Joenje, Marieke Levitus, Quinten Waisfisz, Alan D. D’Andrea, Irene García-Higuera, Tommy Pearson, Carola G.M. van Berkel, Martin A. Rooimans, Neil V. Morgan, Christopher G. Mathew, Fré Arwert
Published 2000Artigo -
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A novel ESR2 frameshift mutation predisposes to medullary thyroid carcinoma and causes inappropriate RET expression by Martin L. Read, Joel Smith, Jon Hoffman, Vicki E. Smith, Neil V. Morgan, Christopher Campbell, N. Wake, John Watkinson, Yvonne Wallis, Eamonn R. Maher, Christopher J. McCabe, Emma R. Woodward
Published 2017Artigo
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Biology
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Blood Platelet Disorders
Computational biology
Genotype
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Biochemistry
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Endocrinology
Exome sequencing
Fanconi anemia
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Molecular biology
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Complementation