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1 |
Material Type: Artigo
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Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrancePatel, Kashyap A ; Kettunen, Jarno ; Laakso, Markku ; Stančáková, Alena ; Laver, Thomas W ; Colclough, Kevin ; Johnson, Matthew B ; Abramowicz, Marc ; Groop, Leif ; Miettinen, Päivi J ; Shepherd, Maggie H ; Flanagan, Sarah E ; Ellard, Sian ; Inagaki, Nobuya ; Hattersley, Andrew T ; Tuomi, Tiinamaija ; Cnop, Miriam ; Weedon, Michael NNature communications, 2017-10, Vol.8 (1), p.888-8, Article 888 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Acute kidney injury in the UK: a replication cohort study of the variation across three regional populationsSawhney, Simon ; Robinson, Heather A ; van der Veer, Sabine N ; Hounkpatin, Hilda O ; Scale, Timothy M ; Chess, James A ; Peek, Niels ; Marks, Angharad ; Davies, Gareth Ivor ; Fraccaro, Paolo ; Johnson, Matthew J ; Lyons, Ronan A ; Nitsch, Dorothea ; Roderick, Paul J ; Halbesma, Nynke ; Miller-Hodges, Eve ; Black, Corrinda ; Fraser, SimonBMJ open, 2018-06, Vol.8 (6), p.e019435-e019435 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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3 |
Material Type: Artigo
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Consensus standards of healthcare for adults and children with inflammatory bowel disease in the UKKapasi, Rukshana ; Glatter, Jackie ; Lamb, Christopher A ; Acheson, Austin G ; Andrews, Charles ; Arnott, Ian D ; Barrett, Kevin J ; Bell, Graham ; Bhatnagar, Guaraang ; Bloom, Stuart ; Brookes, Matthew James ; Brown, Steven R ; Burch, Nicola ; Burman, Andy ; Crook, Kay ; Cummings, JR Fraser ; Davies, Justin ; Demick, Anne ; Epstein, Jenny ; Faiz, Omar ; Feakins, Roger ; Fletcher, Melissa ; Garrick, Vikki ; Jaffray, Bruce ; Johnson, Matthew ; Keetarut, Katie ; Limdi, Jimmy ; Meade, Uchu ; Muhammed, Rafeeq ; Murdock, Andrew ; Posford, Nick ; Rowse, Georgina ; Shaw, Ian ; St Clair Jones, Anja ; Taylor, Stuart ; Weaver, Sean ; Younge, Lisa ; Hawthorne, Antony BarneyFrontline gastroenterology, 2020-05, Vol.11 (3), p.178-187 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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4 |
Material Type: Artigo
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Defining the genetic susceptibility to cervical neoplasia-A genome-wide association studyLeo, Paul J ; Madeleine, Margaret M ; Wang, Sophia ; Schwartz, Stephen M ; Newell, Felicity ; Pettersson-Kymmer, Ulrika ; Hemminki, Kari ; Hallmans, Goran ; Tiews, Sven ; Steinberg, Winfried ; Rader, Janet S ; Castro, Felipe ; Safaeian, Mahboobeh ; Franco, Eduardo L ; Coutlée, François ; Ohlsson, Claes ; Cortes, Adrian ; Marshall, Mhairi ; Mukhopadhyay, Pamela ; Cremin, Katie ; Johnson, Lisa G ; Trimble, Cornelia L ; Garland, Suzanne ; Tabrizi, Sepehr N ; Wentzensen, Nicolas ; Sitas, Freddy ; Little, Julian ; Cruickshank, Maggie ; Frazer, Ian H ; Hildesheim, Allan ; Brown, Matthew A Plagnol, VincentPLoS genetics, 2017-08, Vol.13 (8), p.e1006866-e1006866 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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5 |
Material Type: Artigo
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Management of breathlessness in patients with cancer: ESMO Clinical Practice GuidelinesHui, David ; Maddocks, Matthew ; Johnson, Miriam J ; Ekström, Magnus ; Simon, Steffen T ; Ogliari, Anna C ; Booth, Sara ; Ripamonti, Carla IESMO open, 2020-12, Vol.5 (6), p.e001038-e001038, Article e001038 [Periódico revisado por pares]England: BMJ Publishing GroupTexto completo disponível |