खोज परिणाम - Catherine DeVile
- प्रदर्शित 1 - 8 परिणाम 8
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1
Growth and endocrine sequelae of craniopharyngioma. द्वारा Catherine DeVile, David Grant, Richard Hayward, R Stanhope
प्रकाशित 1996Artigo -
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3
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management द्वारा Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S. Chitty
प्रकाशित 2018Artigo -
4
Randomized, controlled trial of miglustat in Gaucher's disease type 3 द्वारा Raphael Schiffmann, Edmond J. FitzGibbon, Chris Harris, Catherine DeVile, Elin Haf Davies, Larry A. Abel, Ivo N. van Schaik, William Benko, Margaret Timmons, Markus Ries, Ashok Vellodi
प्रकाशित 2008Artigo -
5
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations द्वारा James M. Polke, Matilde Laurá, Davide Pareyson, Franco Taroni, M Milani, Giorgia Bergamin, V.S. Gibbons, Henry Houlden, S.C. Chamley, J. Blake, Catherine DeVile, Richard Sandford, Mary G. Sweeney, Mary B. Davis, Mary M. Reilly
प्रकाशित 2011Artigo -
6
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta द्वारा Meena Balasubramanian, Jane A. Hurst, Stephen Brown, Nick Bishop, Paul Arundel, Catherine DeVile, Rebecca C. Pollitt, Lucy Crooks, Dáša Longman, Javier F. Cáceres, Fiona Shackley, Sally Connolly, Jeanette H. Payne, Amaka C Offiah, David J. Hughes, Michael Parker, Yoshihide Hayashizaki, Timothy M. Skerry
प्रकाशित 2016Artigo -
7
Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigen... द्वारा Yael Hacohen, Sukhvir Wright, Patrick Waters, Shakti Agrawal, Lucinda Carr, J. Helen Cross, Carlos de Sousa, Catherine DeVile, Penny Fallon, Rajat Das Gupta, Tammy Hedderly, Elaine Hughes, Tim Kerr, Karine Lascelles, Jean‐Pierre Lin, Sunny Philip, Keith Pohl, Prab Prabahkar, Martin A. Smith, Ruth Williams, Antonia Clarke, Cheryl Hemingway, Evangeline Wassmer, Angela Vincent, Ming Lim
प्रकाशित 2012Artigo -
8
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome द्वारा 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
प्रकाशित 2017Artigo
खोज साधन:
संबंधित विषय
Medicine
Internal medicine
Pediatrics
Biology
Gene
Genetics
Missense mutation
Mutation
Compound heterozygosity
Encephalopathy
Exome sequencing
Pathology
Psychiatry
Surgery
Adrenal insufficiency
Allele
Antibody
Antidiuretic
Bioinformatics
Bone age
Central nervous system
Choreoathetosis
Chronic traumatic encephalopathy
Clinical endpoint
Clinical trial
Concomitant
Concussion
Craniopharyngioma
Dentinogenesis imperfecta
Diabetes insipidus