Výsledky vyhledávání - Edward Blair

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  1. 1
    Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

    Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenes... Autor Edward Blair

    Vydáno 2001
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  2. 2
    Studies on the vitreous body. I

    Studies on the vitreous body. I Autor Duke-Elder, William Stewart, Robertson, Edward Blair, Davson, Hugh

    Vydáno 1935
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  3. 3
    Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

    Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications Autor Elizabeth Ormondroyd, Stephanie Oates, Michael Parker, Edward Blair, Hugh Watkins

    Vydáno 2013
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  4. 4
    The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome

    The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome Autor Malcolm Kohler, Edward Blair, Peter Risby, A H Nickol, B P Wordsworth, Colin Forfar, John Stradling

    Vydáno 2008
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  5. 5
    The Impact of Obstructive Sleep Apnea on Aortic Disease in Marfan's Syndrome

    The Impact of Obstructive Sleep Apnea on Aortic Disease in Marfan's Syndrome Autor Malcolm Kohler, Alex Pitcher, Edward Blair, Peter Risby, Oliver Senn, Colin Forfar, B P Wordsworth, John Stradling

    Vydáno 2012
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  6. 6
    “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

    “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and th... Autor Elizabeth Ormondroyd, Michael P. Mackley, Edward Blair, Judith Craft, Julian C. Knight, Jenny C. Taylor, John Taylor, Hugh Watkins

    Vydáno 2017
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  7. 7
    Early use of high‐dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome

    Early use of high‐dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome Autor Geetha Anand, Hasan Nadeem, Sathiya S K Jayapal, Zilla Huma, Tariq Ali, Jeremy Hull, Edward Blair, Tony McShane, Sandeep Jayawant

    Vydáno 2011
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  8. 8
    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels Autor Grace Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek

    Vydáno 2014
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  9. 9
    New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations

    New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations Autor Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Haußer, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul Coucke, Anne De Paepe, Zsolt Urbán

    Vydáno 2011
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  10. 10
    Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

    Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency Autor Nicole Reisch, Jan Idkowiak, Beverly Hughes, Hannah E Ivison, Omar Abdul‐Rahman, Laura G. Hendon, Ann Haskins Olney, Shelly Nielsen, Rachel Harrison, Edward Blair, Vivek Dhir, Nils Krone, Cedric Shackleton, Wiebke Arlt

    Vydáno 2013
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  11. 11
    A meckelin–filamin A interaction mediates ciliogenesis

    A meckelin–filamin A interaction mediates ciliogenesis Autor Matthew Adams, Roslyn Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymańska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson

    Vydáno 2011
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  12. 12
    Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

    Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling Autor Kate Baker, Sarah L. Gordon, Detelina Grozeva, Margriet van Kogelenberg, Nicola Roberts, Michael Pike, Edward Blair, Matthew E. Hurles, W.K. Chong, Torsten Baldeweg, Manju A. Kurian, Stewart Boyd, Michael A. Cousin, F. Lucy Raymond

    Vydáno 2015
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  13. 13
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Autor Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    Vydáno 2016
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  14. 14
    Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

    Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma Autor Jean‐Pierre Bayley, Ivonne van Minderhout, Marjan M. Weiss, Jeroen C. Jansen, P. H. N. Oomen, Fred H. Menko, Barbara Pasini, Barbara Ferrando, Nora Wong, Lesley Alpert, Rosie S. Williams, Edward Blair, Peter Devilee, Peter E.M. Taschner

    Vydáno 2006
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  15. 15
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Autor Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    Vydáno 2016
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  16. 16
    Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

    Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Lef... Autor Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Elizabeth Ormondroyd, Alistair T. Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate Thomson, Linda Arnold, S.D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich

    Vydáno 2016
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  17. 17
    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations Autor Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy J. Maarup, Dean Sarco, Alexandra Afenjar, A.H.M. Mahbubul Huq, Mary K. Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Vydáno 2019
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  18. 18
    Cohen syndrome is associated with major glycosylation defects

    Cohen syndrome is associated with major glycosylation defects Autor Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet

    Vydáno 2013
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  19. 19
    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice Autor Alistair T. Pagnamenta, Pierre Heemeryck, Hilary C. Martin, Christophe Bosc, Leticia Peris, Ivy Uszynski, Sylvie Gory‐Fauré, Simon Couly, Charu Deshpande, Ata Siddiqui, Alaa A. Elmonairy, Sandeep Jayawant, Sarada Murthy, Ian Walker, Lucy Loong, Peter Bauer, Frédérique Vossier, Éric Denarier, Tangui Maurice, Emmanuel Barbier, Jean‐Christophe Deloulme, Jenny C. Taylor, Edward Blair, Annie Andrieux, Marie‐Jo Moutin

    Vydáno 2019
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  20. 20
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome Autor Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    Vydáno 2019
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