Hasil Pencarian - Christopher Francklyn

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  1. 1
    11th IUBMB Focused Meeting on the Aminoacyl-tRNA Synthetases: Sailing a New Sea of Complex Functions in Human Biology and Disease

    11th IUBMB Focused Meeting on the Aminoacyl-tRNA Synthetases: Sailing a New Sea of Complex Functions in Human Biology and Disease oleh Christopher Francklyn, Herve Roy, Rebecca Alexander

    Diterbitkan 2018-05-01
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  2. 2
    Knock-Down of Histidyl-tRNA Synthetase Causes Cell Cycle Arrest and Apoptosis of Neuronal Progenitor Cells in vivo

    Knock-Down of Histidyl-tRNA Synthetase Causes Cell Cycle Arrest and Apoptosis of Neuronal Progenitor Cells in vivo oleh Ashley Waldron, Claire Wilcox, Christopher Francklyn, Alicia Ebert

    Diterbitkan 2019-04-01
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  3. 3
    Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

    Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant oleh Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran

    Diterbitkan 2019-06-01
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  4. 4
    Genetic mapping and exome sequencing identify variants associated with five novel diseases.

    Genetic mapping and exome sequencing identify variants associated with five novel diseases. oleh Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss

    Diterbitkan 2012-01-01
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  5. 5
    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish oleh Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

    Diterbitkan 2019-02-01
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