檢索結果 - Ay Lin Kho
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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease 由 Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, M. C. Arne-Bes, Emmanuelle Uro‐Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schäfer, Beat A. Kaufmann, Līvija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloğlu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro
出版 2013Artigo -
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy 由 Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth
出版 2012Artigo -
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Making sense of missense variants in TTN-related congenital myopathies 由 Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige, István Bódi, Charu Deshpande, Özkan Özdemir, Hülya‐Sevcan Daimagüler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah A. Grover, Joël Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Michael G. Hanna, Francesco Muntoni, Anna Sárközy, Rahul Phadke, Rosaline C. M. Quinlivan, Emily C. Oates, Rolf Schröder, Christian T. Thiel, Jens Reimann, Nicol C. Voermans, Corrie E. Erasmus, Erik‐Jan Kamsteeg, Chaminda Konersman, Carla Grosmann, Shane McKee, Sandya Tirupathi, Steven A. Moore, Ekkehard Wilichowski, Elke Hobbiebrunken, Gabriele Dekomien, Isabelle Richard, Peter Van den Bergh, Cristina Domínguez‐González, Sebahattin Çırak, Ana Ferreiro, Heinz Jungbluth, Mathias Gautel
出版 2021Artigo
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