Canlyniadau Chwilio - Ronit Mesterman
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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 gan 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
Cyhoeddwyd 2020Artigo -
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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy gan 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
Cyhoeddwyd 2017Artigo -
4
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly gan 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
Cyhoeddwyd 2017Artigo -
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Definition and classification of hyperkinetic movements in childhood gan 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
Cyhoeddwyd 2010Revisão
Offerynnau Chwilio:
Pynciau Perthynol
Medicine
Biology
Gene
Genetics
Internal medicine
Mutation
Cerebral palsy
Environmental health
Missense mutation
Neuroscience
Pathology
Phenotype
Physical medicine and rehabilitation
Population
AKT1
AKT3
Ambulatory
Apoptosis
Athetosis
Bioinformatics
Cancer research
Cell biology
Chorea
Copy-number variation
Cortical dysplasia
Disease
Dystonia
Encephalopathy
Epilepsy
Etiology