検索結果 - Jane Ashworth
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The ocular features of the mucopolysaccharidoses 著者: Jane Ashworth, Susmito Biswas, Ed Wraith, I. Christopher Lloyd
出版事項 2005Artigo -
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Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach 著者: Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth
出版事項 2016Artigo -
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Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract 著者: Rachel Gillespie, Jill Urquhart, Beverley Anderson, Simon G. Williams, Sarah Waller, Jane Ashworth, Susmito Biswas, Simon Jones, Fiona Stewart, I. Christopher Lloyd, Jill Clayton‐Smith, Graeme Black
出版事項 2015Revisão -
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Cataract management in children: a review of the literature and current practice across five large UK centres 著者: Jay Self, Rachel L. Taylor, Ameenat Lola Solebo, Susmito Biswas, Manoj Parulekar, Arundhati Dev Borman, Jane Ashworth, Rory McClenaghan, Joseph Abbott, Elizabeth O’Flynn, Darius Hildebrand, I. Christopher Lloyd
出版事項 2020Revisão -
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Clinical and genetic variability in children with partial albinism 著者: Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis
出版事項 2019Artigo -
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders 著者: Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis
出版事項 2019Artigo -
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Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellect... 著者: Jill Clayton‐Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet K. Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Greg James, Lena Westbom, Ruth Day, E J Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer, Jane Ashworth, Daniel Hindley, Gemma Arca, Myfanwy Rawson, Peter D. Turnpenny
出版事項 2019Artigo -
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Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis 著者: Axel Petzold, Laura J. Balcer, Peter A. Calabresi, Fiona Costello, Teresa C. Frohman, Elliot M. Frohman, Elena H. Martínez‐Lapiscina, Ari Green, Randy H. Kardon, Olivier Outteryck, Friedemann Paul, Sven Schippling, P. Vermersch, Pablo Villoslada, Lisanne J. Balk, Orhan Aktaş, Philipp Albrecht, Jane Ashworth, Nasrin Asgari, Laura J. Balcer, Lisanne J. Balk, Graeme Black, Daniel Boehringer, Raed Behbehani, Leslie Benson, Robert Bermel, Jacqueline Bernard, Alexander U. Brandt, Jodie Burton, Peter A. Calabresi, Jonathan Calkwood, Christian Cordano, Fiona Costello, Ardith Courtney, Andrés Cruz-Herranz, Ricarda Diem, Avril Daly, Hélène Dollfus, Christina Fasser, Carsten Finke, Jette Lautrup Frederiksen, Elliot M. Frohman, Teresa C. Frohman, Elena García‐Martín, Inés González‐Suarez, Gorm Pihl-Jensen, Jennifer Graves, Ari Green, Joachim Havla, Bernhard Hemmer, Su‐Chun Huang, Jaime Imitola, Hong Jiang, David Keegan, Eric Kildebeck, Alexander Klistorner, Benjamin Knier, Scott Kolbe, Thomas Korn, Bart P. Leroy, Letizia Leocani, Dorothée Leroux, Nathan W. Levin, Petra Lišková, Birgit Lorenz, Jana Lízrová Preiningerová, Elena H. Martínez‐Lapiscina, Janine Mikolajczak, Xavier Montalbán, Mark J. Morrow, Rachel Nolan, Timm Oberwahrenbrock, Frederike Cosima Oertel, Celia Oreja‐Guevara, Benjamin Osborne, Olivier Outteryck, Athina Papadopoulou, Friedemann Paul, Axel Petzold, Marius Ringelstein, Shiv Saidha, Bernardo Sánchez‐Dalmau, Jaume Sastre‐Garriga, Sven Schippling, Robert K. Shin, Neil Shuey, Kerstin Soelberg, Ahmed Toosy, R. Martinez Torres, Ángela Vidal‐Jordana, Pablo Villoslada, Amy Waldman, Owen White, Ann Ming Yeh, Sui H. Wong, Hanna Zimmermann
出版事項 2017Revisão -
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Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study 著者: 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
出版事項 2021Artigo
関連主題
Medicine
Pediatrics
Biology
Genetics
Ophthalmology
Internal medicine
Pathology
Disease
Optometry
Biochemistry
Cell biology
Cellulose
Cohort
Extracellular matrix
Fibrillin
Gene
Genetic testing
Intensive care medicine
Microfibril
Psychiatry
Cataracts
Chemistry
Elastin
Environmental health
Enzyme replacement therapy
Glaucoma
Law
Matrix metalloproteinase
Mucopolysaccharidosis
Mutation