Rezultati - Joseph Cook
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Rare copy number variants are an important cause of epileptic encephalopathies od Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu, Joseph Cook, Eileen Geraghty, Jacinta M. McMahon, Orvar Eeg‐Olofsson, Lynette G. Sadleir, Deepak Gill, Bruria Ben‐Zeev, Tally Lerman‐Sagie, Mark T. Mackay, Jeremy L. Freeman, Eva Andermann, James T. Pelakanos, Ian Andrews, Geoffrey Wallace, Evan E. Eichler, Samuel F. Berkovic, Ingrid E. Scheffer
Izdano 2011Artigo -
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GRIN2A mutations cause epilepsy-aphasia spectrum disorders od Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle, Brian J. O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G. Sadleir, Samantha J. Turner, Meng‐Han Tsai, Richard Webster, Robert Ouvrier, John A. Damiano, Samuel F. Berkovic, Jay Shendure, Michael S. Hildebrand, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford
Izdano 2013Artigo -
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<i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome od Gemma L. Carvill, Sarah Weckhuysen, Jacinta M. McMahon, Corinna Hartmann, Rikke S. Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J. O’Roak, Steven Petrou, Alison L. Clarke, Deepak Gill, Lynette G. Sadleir, Hiltrud Muhle, Sarah von Spiczak, Marina Nikanorova, Bree Hodgson, Elena V. Gazina, Arvid Suls, Jay Shendure, Leanne M. Dibbens, Peter De Jonghe, Ingo Helbig, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford
Izdano 2014Artigo -
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome od Heather C. Mefford, Jill A. Rosenfeld, Natasha Shur, Anne Slavotinek, Victoria Cox, Raoul C. M. Hennekam, Helen V. Firth, Lionel Willatt, Patricia G. Wheeler, Eric M. Morrow, Joseph Cook, Rachel Sullivan, Albert K. Oh, Marie McDonald, Jonathan Zonana, Kory Keller, Mark C. Hannibal, Susie Ball, Jennifer Kussmann, Jerome L. Gorski, Susan Zelewski, Valerie Banks, Wendy E. Smith, Rosemarie Smith, Lindsay Paull, Kenneth N. Rosenbaum, David J. Amor, João Silva, Allen N. Lamb, Evan E. Eichler
Izdano 2011Artigo -
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 od 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
Izdano 2013Artigo -
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Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome od Mark C. Hannibal, Kati J. Buckingham, Sarah Ng, Jeffrey E. Ming, Anita Beck, Margaret J. McMillin, Heidi Gildersleeve, Abigail W. Bigham, Holly K. Tabor, Heather C. Mefford, Joseph Cook, Koh‐ichiro Yoshiura, Tadashi Matsumoto, Naomichi Matsumoto, Noriko Miyake, Hidefumi Tonoki, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Hirofumi Ohashi, Kenji Kurosawa, Jia‐Woei Hou, Tohru Ohta, Deshung Liang, Akira Sudo, Colleen A. Morris, Siddharth Banka, Graeme Black, Jill Clayton‐Smith, Deborah A. Nickerson, Elaine H. Zackai, Tamim H. Shaikh, Dian Donnai, Norio Niikawa, Jay Shendure, Michael J. Bamshad
Izdano 2011Artigo
Iskalna orodja:
Sorodne teme
Biology
Genetics
Gene
Medicine
Epilepsy
Mutation
Internal medicine
Neuroscience
Phenotype
Psychiatry
Bioinformatics
Cohort
Comparative genomic hybridization
Copy-number variation
Etiology
Genome
Pathology
Pediatrics
Agricultural economics
Aphasia
Bacteria
Breakpoint
Business
Candidate gene
Cholera
Cholera vaccine
Chromosome
Coping (psychology)
Cost effectiveness
Cost-effectiveness analysis