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Material Type: Artigo
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report100,000 Genomes Project Pilot Investigators ; Cipriani, Valentina ; Ellingford, Jamie M ; Tucci, Arianna ; Chan, Georgia ; Ratnaike, Thiloka ; Wei, Wei ; Stirrups, Kathleen ; Moutsianas, Loukas ; Wielscher, Matthias ; Barnes, Michael R ; Buchanan, James ; Wordsworth, Sarah ; Ashford, Sofie ; Twiss, Philip ; Halsall, Sally ; Poole, Kenneth ; Wagner, Annette ; Gurnell, Mark ; Burrows, Nigel ; Mapeta, Rutendo ; Haworth, Andrea ; Savage, Helen ; Babcock, Melanie ; Boustred, Christopher ; Devereau, Andrew ; Halai, Dina ; Hyder, Zerin ; Kasperaviciute, Dalia ; Patch, Christine ; Matchan, Angela ; Tavares, Ana LT ; Tregidgo, Carolyn ; Welland, Matthew ; Leigh, Sarah ; Foulger, Rebecca E ; Daugherty, Louise C ; Niblock, Olivia ; Leong, Ivone US ; Welch, James ; Woods, Kerrie ; Abulhoul, Lara ; Aurora, Paul ; Broomfield, Alexander ; Cleary, Maureen A ; Lam, Tanya ; Grunewald, Stephanie ; Muntoni, Francesco ; Thapar, Nikhil ; Wallis, Colin ; Worth, Austen ; Bueser, Teofila ; Compton, Cecilia ; Fassihi, Hiva ; Ruddy, Deborah ; Sarkany, Robert ; Shaw, Adam C ; Habib, Bishoy ; Burns, Gavin ; Robinson, Peter N ; Haendel, Melissa ; Simpson, Michael A ; Banka, Siddharth ; Clayton-Smith, Jill ; Douzgou, Sofia ; O'Keefe, Raymond T ; Michaelides, Michel ; Malka, Sam ; Straub, Volker ; Gorman, Gráinne S ; Horvath, Rita ; Schaefer, Andrew M ; O'Connor, Emer ; Yip, Janice ; Morris, Huw R ; Polke, James ; Wood, Nicholas W ; Camps, Carme ; Lester, Tracy ; Németh, Andrea H ; Patel, Smita ; Sen, Arjune ; Cacheiro, Pilar ; Chitty, Lyn ; McMullan, Dom ; Temple, I Karen ; Wilson, Gill ; Beales, Phil ; Bradley, John R ; Chinnery, Patrick F ; Flinter, Frances ; Houlden, Henry ; Rahman, Shamima ; Webster, Andrew R ; Wilkie, Andrew OM ; Ouwehand, Willem H ; Chisholm, John ; Bentley, David ; Fowler, Tom ; Rendon, AugustoDepartment of Haematology 2021-11Texto completo disponível |
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Material Type: Livro
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Bone Densitometry in Growing Patients: Guidelines for Clinical Practice9781597452113 Fung, Ellen B. ; Sawyer, Aenor J. ; Bachrach, Laura K.Totowa, NJ: Humana Press 2006Texto completo disponível |
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Material Type: Artigo
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Cognitive deficits in spinocerebellar ataxia 2Bürk, K. ; Globas, C. ; Bösch, S. ; Gräber, S. ; Abele, M. ; Brice, A. ; Dichgans, J. ; Daum, I. ; Klockgether, T.Brain (London, England : 1878), 1999-04, Vol.122 (4), p.769-777 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Testicular epidermoid cystÇakıroğlu, Basri ; Sönmez, Nurettin Cem ; Sinanoğlu, Orhun ; Ateş, Lora ; Aksoy, Süleyman Hilmi ; Özcan, FarukAfrican journal of paediatric surgery, 2015-01, Vol.12 (1), p.89-90 [Periódico revisado por pares]India: Medknow Publications and Media Pvt. LtdTexto completo disponível |
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Material Type: Artigo
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Models for the modern power gridCardieri, Paulo, 1964- Universidade Estadual de Campinas (Unicamp); Universidade Estadual De Campinashttps://repositorio.unicamp.br/acervo/detalhe/11912042014Acesso online |
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Material Type: Artigo
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Histological subtypes of symptomatic central nervous system tumours in SingaporeDas, A ; Chapman, C A T ; Yap, W MJournal of neurology, neurosurgery and psychiatry, 2000-03, Vol.68 (3), p.372-374 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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A retrospective review of patients with clinically definite multiple sclerosisDas, A ; Puvanendran, KAnnals of the Academy of Medicine, Singapore, 1998-03, Vol.27 (2), p.204-209 [Periódico revisado por pares]SingaporeTexto completo disponível |
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Material Type: Artigo
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An economic analysis of endoscopic ablative therapy for management of nondysplastic Barrett’s esophagusDas, A. ; Wells, C. ; Kim, H. J. ; Fleischer, D. E. ; Crowell, M. D. ; Sharma, V. K.Endoscopy, 2009-05, Vol.41 (5), p.400-408 [Periódico revisado por pares]Stuttgart: ThiemeTexto completo disponível |
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Material Type: Artigo
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Non-motor associative learning in patients with isolated degenerative cerebellar diseaseDREPPER, J ; TIMMANN, D ; KOLB, F. P ; DIENER, H. CBrain (London, England : 1878), 1999, Vol.122 (1), p.87-97 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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2009 ACCF/AHA focused update on perioperative beta blockade incorporated into the ACC/AHA 2007 guidelines on perioperative cardiovascular evaluation and care for noncardiac surgery: a report of the American college of cardiology foundation/American heart association task force on practice guidelinesFleisher, Lee A ; Beckman, Joshua A ; Brown, Kenneth A ; Calkins, Hugh ; Chaikof, Elliot L ; Fleischmann, Kirsten E ; Freeman, William K ; Froehlich, James B ; Kasper, Edward K ; Kersten, Judy R ; Riegel, Barbara ; Robb, John FCirculation (New York, N.Y.), 2009-11, Vol.120 (21), p.e169-e276 [Periódico revisado por pares]United StatesTexto completo disponível |