نتائج البحث - Emily Mountier
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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures حسب Candace T. Myers, Nicholas Stong, Emily Mountier, Katherine L. Helbig, Saskia Freytag, Joseph Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen Oliver, Michelle Ernst, Natalie Lippa, Maureen Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen
منشور في 2017Artigo -
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Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome حسب Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim
منشور في 2017Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Epilepsy
Gene
Genetics
Internal medicine
Medicine
Mutation
Bioinformatics
Calcineurin
Choreoathetosis
Disease
Dravet syndrome
Dystonia
Encephalopathy
Exome sequencing
Intellectual disability
Missense mutation
Neurodevelopmental disorder
Neuroscience
Pediatrics
Proband
Psychiatry
Transplantation