Søgeresultater - Anita Devlin
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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families af Helen Tuppen, Vanessa Hogan, Langping He, Emma L. Blakely, Lisa Worgan, Mazhor Aldosary, Gabriele Saretzki, Charlotte L. Alston, Andrew A. M. Morris, Michael A. Clarke, Simon Jones, Anita Devlin, Sahar Mansour, Zofia M. Chrzanowska‐Lightowlers, David R. Thorburn, Robert McFarland, Robert W. Taylor
Udgivet 2010Artigo -
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Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases af Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi
Udgivet 2017Artigo -
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Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial af Natasha E. Schoeler, Louise Marston, Laura Lyons, Sally Halsall, Ruchika Jain, Siobhan Titre-Johnson, Maryam Balogun, Simon Heales, Simon Eaton, Michael Orford, Elizabeth Neal, Colin Reilly, Christin Eltze, Elma Stephen, Andrew A. Mallick, Finbar O’Callaghan, Shakti Agrawal, Alasdair Parker, Martin Kirkpatrick, Andreas Brunklaus, Ailsa McLellan, Helen McCullagh, Rajib Samanta, Rachel Kneen, Hui Jeen Tan, Anita Devlin, Manish Prasad, Rohini Rattihalli, Helen Basu, Archana Desurkar, Ruth Williams, Penny Fallon, Irwin Nazareth, Nick Freemantle, J. Helen Cross
Udgivet 2023Artigo -
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Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study af Lucinda Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi, Joe Abbott, Wajda Abdullah, Gill Adams, Louise Allen, Christopher M. Anderson, Karen Ansell, Samira Anwar, Isabel M Ash, Jane Ashworth, Sher A. Aslam, Majunath Astagi, Colin Ball, Rajesh Balu, Victoria Barrett, Z. Bassi, Adam Bates, Dushyant Batra, Sarah Bell, Linda Belmour, James Benzimra, Ginny Birrell, Susmito Biswas, Andrew Blaikie, M S J Blundell, Kate Bolton, Ewoud Bos, Pamela G. Bowen, Richard Bowman, Natalie Boyle, John Bradbury, Maria Bredow, Marsel Bregu, Nicholas Brennan, Rosie Brennan, Paul Brittain, Charles Buchanan, Catey Bunce, Howard Bunting, Priscilla Burgess, Cathie Burke, Alexandra Kate Bush, Jeremy Butcher, Lucilla Butler, Clare Cane, Cathryn Chadwick, Ruth Charlton, Anne‐Marie Childs, Jessy Choi, Vivi Choleva, A Churchill, Michael W. Clarke, Peter Clayton, Luke Clifford, Alan Connor, Rachel Cox, Lyn Cresswell, Annegret Dahlmann‐Noor, Angela D’Amore, Mehul Dattani, Fiona Dean, Anita Devlin, Luna Dhir, Cora Doherty, S E Dorey, Fiona Drimmie, Tina Duke, Gordon N. Dutton, F.B. Eaton, Megan Eaton, Danielle Eckersley, Clive Edelsten, Rachel Elderkin, Julia Ennis, J A Escardó-Paton, Ziad Estephen, Onajite Etuwewe, Anthony Evans, Adjoa Ezekwe, Jenny Fairfield, Kevin Falzon, Allison Ferguson, Brian W. Fleck, Mary Gainsborough, Alexandra Galloway, Naomi Gerson-Sofer, Caspar Gibbon, Patricia Gibson, Kevin C. W. Goss, Katherine Graham-Evans, Judith Gray, Anna Gregory, Arun Gulati, Deniz Gurtin-Zorkun, Emma Guy, Diab Haddad, Helen R. Haggerty, P M Haigh
Udgivet 2021Artigo -
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration af Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, Valerio Conti, Simone Giubbolini, Rebekah Barrick, Gaber Bergant, Karin Writzl, Emilia K. Bijlsma, Theresa Brunet, Pilar Cacheiro, Davide Mei, Anita Devlin, Mariëtte J.V. Hoffer, Keren Machol, Guido Mannaioni, Masamune Sakamoto, Manoj P. Menezes, Thomas Courtin, Elliott H. Sherr, Riccardo Parra, Ruth Richardson, Tony Roscioli, Marcello Scala, Celina von Stülpnagel, Damian Smedley, Francesca Pochiero, Francesco Mari, Venkateswaran Ramesh, Valeria Capra, Maria Margherita Mancardi, Boris Keren, C. Mignot, Matteo Lulli, Kendall C. Parks, Helen Griffin, Melanie Brugger, Vincenzo Nigro, Mitsuhiro Kato, Reiko Koichihara, Borut Peterlin, Mitsuhiro Kato, Ryuto Maki, Yohei Nitta, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Bingyang Shi, Tim Hubbard, Robert B. Jackson, Louise J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Anna Lakey, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael P. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Monica Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas
Udgivet 2023Artigo
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