檢索結果 - Mythily Ganapathi
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Recessive but damaging alleles of muscle-specific ribosomal protein gene RPL3L drive neonatal dilated cardiomyopathy 由 Michael R. Murphy, Mythily Ganapathi, Teresa M. Lee, John Fisher, Maharshi Patel, Parul Jayakar, Amanda Buchanan, Rajesh K. Soni, Yin Yue, F.-Y. Yang, Muredach P. Reilly, Wendy K. Chung, Xuebing Wu
出版 2025Pré-impressão -
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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder 由 Mythily Ganapathi, Leah R. Padgett, Kentaro Yamada, Orrin Devinsky, Rebecca Willaert, Richard Person, Ping‐Yee Billie Au, Julia Tagoe, Marie McDonald, Danielle Karlowicz, Barry Wolf, Joanna Lee, Yufeng Shen, Volkan Okur, Liyong Deng, Charles A. LeDuc, Jiayao Wang, Ashleigh S. Hanner, Raghavendra G. Mirmira, Myung Hee Park, Teresa L. Mastracci, Wendy K. Chung
出版 2019Artigo -
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Causal Genetic Variants in Stillbirth 由 Kate E. Stanley, Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi, Jun Liao, Avinash V. Dharmadhikari, Anya Revah‐Politi, Michelle Ernst, Natalie Lippa, Halie Holmes, Gundula Povysil, Joseph Hostyk, Corette B. Parker, Robert L. Goldenberg, George R. Saade, Donald J. Dudley, Halit Pınar, Carol J. Hogue, Uma M. Reddy, Robert M. Silver, Vimla S. Aggarwal, Andrew S. Allen, Ronald J. Wapner, David B. Goldstein
出版 2020Artigo -
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 由 Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia
出版 2020Artigo -
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations 由 Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou‐Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, B. Chabrol, Valérie Cormier‐Daire, Albert David, B. Eymard, Laurence Faivre, Dominique Figarella‐Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain K. Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israëł-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, S. Mallet, Stuart A. MacGowan, Maeve A. McAleer, W.H. Irwin McLean, C. Méni, Arnold Münnich, Jean-Marie Mussini, Péter L. Nagy, Jeffrey G. Odel, Gráinne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, E. Puzenat, Jacinda B. Sampson, Frances J.D. Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, S. Barbarot, Stéphane Bézieau
出版 2015Artigo -
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 由 Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi
出版 2023Artigo
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