Resultados da pesquisa - Geoff Wallace
- A mostrar 1 - 6 resultados de 6
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Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. Por Arabella Smith, C. Alex Wiles, Eric Haan, James McGill, Geoff Wallace, Joanne Dixon, Richard W. Selby, Andrew Colley, Robin Marks, Ronald J. Trent
Publicado em 1996Revisão -
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Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i> Por Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy L. Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello‐Espinosa, Mark T. Mackay, Geoff Wallace, Michaela Waak, Jing Zhang, Cheng Yang, Stephen Malone, Yuehua Zhang, Heather C. Mefford, Ingrid E. Scheffer
Publicado em 2017Artigo -
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Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene Por Biljana Ilkovski, Sandra T. Cooper, Kristen L. Nowak, Monique M. Ryan, Nan Yang, Christina Schnell, Hayley J. Durling, Laurence G. Roddick, Ian B. Wilkinson, Andrew J. Kornberg, Kevin Collins, Geoff Wallace, Peter W. Gunning, Edna C. Hardeman, Nigel G. Laing, Kathryn N. North
Publicado em 2001Artigo -
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 Por Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford
Publicado em 2013Artigo -
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Por Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer
Publicado em 2020Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Medicine
Gene
Genetics
Epilepsy
Internal medicine
Phenotype
Psychiatry
Encephalopathy
Missense mutation
Mutation
Neuroscience
Pathology
Pediatrics
Actin
Age of onset
Agonist
Anatomy
Angelman syndrome
Anticonvulsant
Bioinformatics
Biopsy
Cannabidiol
Cannabinoid
Cannabinoid receptor
Cannabinoid receptor type 2
Cannabis
Cohort
Congenital myopathy
DNA sequencing