Resultados de búsqueda - Georgina Hall
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Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach por Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth
Publicado 2016Artigo -
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A paradigm shift in the delivery of services for diagnosis of inherited retinal disease por James O’Sullivan, Brendan G Mullaney, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Georgina Hall, Anna O’Grady, Andrew R. Webster, Simon Ramsden, Graeme Black
Publicado 2012Artigo -
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Treatment of bleeding episodes in haemophilia A complicated by a factor VIII inhibitor in patients receiving Emicizumab. Interim guidance from UKHCDO Inhibitor Working Party and Ex... por Peter W. Collins, Ri Liesner, Michael Makris, Kate Talks, Pratima Chowdary, Elizabeth Chalmers, Georgina Hall, Anne Riddell, Charles Percy, C. R. M. Hay, Daniel P. Hart
Publicado 2018Carta -
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Resection alone in 58 children with limited stage, lymphocyte‐predominant Hodgkin lymphoma–experience from the European network group on pediatric Hodgkin lymphoma por Christine Mauz‐Körholz, S. Gorde-Grosjean, Dirk Hasenclever, Ananth Shankar, W Dörffel, William H. Wallace, G. Schellong, Alain Robert, Dieter Körholz, Odile Oberlin, Georgina Hall, Judith Landman‐Parker
Publicado 2007Artigo -
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Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemia por Christoph Lutz, Petter Woll, Georgina Hall, Anders Castor, Hélène Dreau, Giovanni Cazzaniga, Jan Zuna, C. E. Jensen, Sally A. Clark, Andrea Biondi, Chris Mitchell, Helen Ferry, Anna Schuh, Veronica J. Buckle, Sten Eirik W. Jacobsen, Tariq Enver
Publicado 2012Carta -
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Guideline for the diagnosis and management of myelofibrosis por John T. Reilly, Mary Frances McMullin, Philip Beer, Nauman M. Butt, Eibhlin Conneally, Andrew Duncombe, Anthony R. Green, N. George Michaeel, Maria Gilleece, Georgina Hall, Steven Knapper, Adam J. Mead, Ruben A. Mesa, Mallika Sekhar, Bridget S. Wilkins, Claire Harrison
Publicado 2012Artigo -
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Molecular findings from 537 individuals with inherited retinal disease por Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Paul N. Bishop, Simon Ramsden, Graeme Black
Publicado 2016Artigo -
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Clinical and genetic variability in children with partial albinism por 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
Publicado 2019Artigo -
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders por 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
Publicado 2019Artigo -
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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease por Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme Black
Publicado 2016Artigo -
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Guideline for investigation and management of adults and children presenting with a thrombocytosis por Claire Harrison, D. Bareford, Nauman M. Butt, Peter J. Campbell, Eibhlin Conneally, Mark W. Drummond, Wendy N. Erber, Tamara Everington, Anthony R. Green, Georgina Hall, Beverley J. Hunt, Christopher A. Ludlam, Richard Murrin, Catherine Nelson‐Piercy, Deepti Radia, John T. Reilly, Jon van der Walt, Bridget S. Wilkins, Mary Frances McMullin
Publicado 2010Revisão -
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G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction por Bu Hayee, Aristotelis Antonopoulos, Emma J. Murphy, Farooq Rahman, Gavin W. Sewell, Bruce N. Smith, S. McCartney, Mark Furman, Georgina Hall, Stuart Bloom, Stuart M. Haslam, Howard R. Morris, Kaan Boztuğ, Christoph Klein, Bryan Winchester, Edgar Pick, David C. Linch, Rosemary E. Gale, Andrew Smith, Anne Dell, Anthony W. Segal
Publicado 2011Artigo -
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A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias por Noémi Roy, Edward A. Wilson, Shirley Henderson, Katherine Wray, Christian Babbs, Steven Okoli, Wale Atoyebi, Avery Mixon, Mary R. Cahill, Peter Carey, Jonathan Cullis, Julie Curtin, Hélène Dreau, David Ferguson, Brenda Gibson, Georgina Hall, Joanne Mason, Mary Morgan, Melanie Proven, Amrana Qureshi, Joaquín Sánchez‐Garcia, Nongnuch Sirachainan, Juliana Teo, Ulf Tedgård, Douglas R. Higgs, David J. Roberts, Irene Roberts, Anna Schuh
Publicado 2016Artigo -
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Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia por Virginia Turati, José Afonso Guerra‐Assunção, Nicola Potter, Rajeev Gupta, Simone Ecker, Agne Daneviciute, Maxime Tarabichi, Amy P. Webster, Chuling Ding, Gillian May, Chela James, John Brown, Lucía Conde, Lisa J. Russell, Phil Ancliff, Sarah Inglott, Giovanni Cazzaniga, Andrea Biondi, Georgina Hall, Mark Lynch, Michael Hubank, Iain C. Macaulay, Stephan Beck, Peter Van Loo, Sten Eirik W. Jacobsen, Mel Greaves, Javier Herrero, Tariq Enver
Publicado 2021Artigo -
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GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia por Irene Roberts, Kate Alford, Georgina Hall, Gaëtan Juban, Helen Richmond, Alice Norton, Grant Vallance, Kelly Perkins, Emanuele Marchi, Simon J. McGowan, Anindita Roy, Gillian Cowan, Mark Anthony, Amit Gupta, John Ho, Sabita Uthaya, Anna Curley, Shree Vishna Rasiah, Timothy J. Watts, Richard Nicholl, A Bedford-Russell, Raoul Blumberg, Angela Thomas, Brenda Gibson, Christina Halsey, Pek-Wan Lee, Sunit Godambe, Connor Sweeney, Neha Bhatnagar, Anne Goriely, Peter J. Campbell, Paresh Vyas
Publicado 2013Artigo -
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Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement por Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord
Publicado 2015Artigo -
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa por Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A. Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren Carss, Alessia Fiorentino, Matthew Hayes, Peter Munro, Ralph Nicols, Nikolas Pontikos, Graham E. Holder, Chinwe Asomugha, F. Lucy Raymond, Anthony T. Moore, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Yumei Li, Catherine A. Cukras, Andrew R. Webster, Michael E. Cheetham, Rui Chen, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Kamron Khan, Emma Lord, Andrea H. Németh, Susan M. Downes, Jing Yu, Stefano Lise, Gavin Arno, Alessia Fiorentino, Nikos Ponitkos, Vincent Plagnol, Michel Michaelides, Alison J. Hardcastle, Michael E. Cheetham, Andrew R. Webster, Veronica van Heyningen
Publicado 2016Artigo
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