Search Results - Ronit Mesterman
- Showing 1 - 5 results of 5
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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy by Andrew E. Fry, Christopher Marra, Anna V. Derrick, William Owen Pickrell, Adam T. Higgins, Johann te Water Naudé, Martin A. McClatchey, Sally Davies, Kay Metcalfe, Hui Jeen Tan, Rajiv Mohanraj, Shivaram Avula, Denise Williams, Lauren Brady, Ronit Mesterman, Mark A. Tarnopolsky, Yuehua Zhang, Ying Yang, Xiaodong Wang, Mark I. Rees, Mitchell Goldfarb, Seo‐Kyung Chung
Published 2020Artigo -
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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy by Mehdi Zarrei, Darcy Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R. MacDonald, Matthew J. Gazzellone, Edward J. Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R. Marshall, Dimitri J. Stavropoulos, Richard F. Wintle, Stephen W. Scherer
Published 2017Artigo -
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa
Published 2017Artigo -
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Definition and classification of hyperkinetic movements in childhood by Terence D. Sanger, Daofen Chen, Darcy Fehlings, Mark Hallett, Anthony E. Lang, Jonathan W. Mink, Harvey S. Singer, Katharine E. Alter, Hilla Ben‐Pazi, Erin E. Butler, Robert Chen, Abigail Collins, Sudarshan Dayanidhi, Hans Forssberg, Eileen Fowler, Donald L. Gilbert, Sharon L. Gorman, Mark Gormley, Hyder A. Jinnah, Barbara Kornblau, Kristin J. Krosschell, Rebecca Lehman, Colum D. MacKinnon, C. J. Malanga, Ronit Mesterman, Margaret Barry Michaels, Toni S. Pearson, Jessica Rose, Barry S. Russman, Dagmar Sternad, Kathryn J. Swoboda, Francisco J. Valero‐Cuevas
Published 2010Revisão
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