Søgeresultater - Nancy D. Merner

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  1. 1
    A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

    A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery af Madison R. Chandler, Erin P. Bilgili, Nancy D. Merner

    Udgivet 2016
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    Revisão
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  2. 2
    Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

    Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia af Nancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang, Arjun R. Khanna, Patrick A. Dion, Guy A. Rouleau, Kristopher T. Kahle

    Udgivet 2015
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    Artigo
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  3. 3
    Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

    Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada af Annika Haywood, Nancy D. Merner, Kathy Hodgkinson, Jim Houston, Petros Syrris, Valerie Booth, Sean P. Connors, Antonios Pantazis, Giovanni Quarta, Perry Elliott, William J. McKenna, Terry‐Lynn Young

    Udgivet 2012
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    Artigo
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  4. 4
    Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

    Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene af Nancy D. Merner, Kathy Hodgkinson, Annika Haywood, Sean P. Connors, Vanessa French, Jörg‐Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William J. McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry‐Lynn Young

    Udgivet 2008
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    Artigo
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  5. 5
    VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

    VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families af Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner, Kanwal K. Grewal, Mark Stefanelli, Kathleen Hodgkinson, Elizabeth Ives, William Pryse‐Phillips, Mandar Jog, Kym M. Boycott, David A. Grimes, Sharan Goobie, Richard Leckey, Patrick A. Dion, Guy A. Rouleau

    Udgivet 2012
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    Artigo
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  6. 6
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor af Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau

    Udgivet 2012
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    Artigo
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  7. 7
    Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy

    Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy af Kristopher T. Kahle, Nancy D. Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela Lachance‐Touchette, Cynthia V. Bourassa, Annie Levert, Patrick A. Dion, Brian P. Walcott, Dan Spiegelman, Alexandre Dionne‐Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Z. Deeb, Stephen J. Moss, Igor Medina, Guy A. Rouleau

    Udgivet 2014
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    Artigo
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  8. 8
    KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

    KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 af Jean‐Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy D. Merner, Daniel Rochefort, Pascale Hince, Rébecca Gaudet, Anne‐Marie Mes‐Masson, Jonathan Baets, Henry Houlden, Bernard Brais, Garth A. Nicholson, Hilde Van Esch, Shahriar Nafissi, Peter De Jonghe, Mary M. Reilly, Vincent Timmerman, Patrick A. Dion, Guy A. Rouleau

    Udgivet 2011
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    Artigo
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  9. 9
    Genome-wide association study in essential tremor identifies three new loci

    Genome-wide association study in essential tremor identifies three new loci af Stefanie H. Müller, Simon Girard, Franziska Hopfner, Nancy D. Merner, Cynthia V. Bourassa, Delia Lorenz, Lorraine N. Clark, Lukas Tittmann, Alexandra I. Soto‐Ortolaza, Stephan Klebe, Mark Hallett, Susanne A. Schneider, Colin A. Hodgkinson, Wolfgang Lieb, Zbigniew K. Wszołek, Manuela Pendziwiat, Oswaldo Lorenzo‐Betancor, Werner Poewe, Sara Ortega‐Cubero, Klaus Seppi, Alex Rajput, Anna Hussl, Ali H. Rajput, Daniela Berg, Patrick A. Dion, Isabel Wurster, Joshua Shulman, Karin Srulijes, Dietrich Haubenberger, Pau Pástor, Carles Vilariño‐Güell, Ronald B. Postuma, Geneviève Bernard, Karl‐Heinz Ladwig, Nicolas Dupré, Joseph Jankovic, Konstantin Strauch, Michel Panisset, Juliane Winkelmann, Claudia Testa, Eva Reischl, Kirsten E. Zeuner, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Günther Deuschl, Elan D. Louis, Gregor Kuhlenbäumer, Guy A. Rouleau

    Udgivet 2016
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    Artigo
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