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Material Type: Artigo
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10-year follow-up of the Super-Seniors Study: compression of morbidity and genetic factorsTindale, Lauren C ; Salema, Diane ; Brooks-Wilson, Angela RBMC geriatrics, 2019-02, Vol.19 (1), p.58-58, Article 58 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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10-Year Survival After FFR-Guided Strategy in Isolated Proximal Left Anterior Descending Coronary StenosisMilkas, Anastasios ; Rueda-Ochoa, Oscar Leonel ; Fournier, Stephane ; Muller, Olivier ; Van Rooij, Frank ; Franco, Oscar Horacio ; Collet, Carlos ; Barbato, Emanuele ; Kavousi, Maryam ; De Bruyne, BernardJournal of the American College of Cardiology, 2019-09, Vol.74 (10), p.1420-1421 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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10 years later: Assessing the impact of public health efforts on the collection of family health historyWelch, Brandon M. ; O'Connell, Nathaniel ; Schiffman, Joshua D.American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2026-2033 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary ReportMartin, Antonio ; Arno, Gavin ; Tucci, Arianna ; Chan, Georgia ; Williams, Hywel J ; Stirrups, Kathleen ; Ibanez, Kristina ; Moutsianas, Loukas ; Vestito, Letizia ; Wordsworth, Sarah ; Ashford, Sofie ; Spasic-Boskovic, Olivera ; Gurnell, Mark ; Burrows, Nigel ; Dewhurst, Eleanor ; Gräf, Stefan ; Mapeta, Rutendo ; Haworth, Andrea ; Savage, Helen ; Reese, Martin G ; Baple, Emma ; Boustred, Christopher ; de Burca, Anna ; Kasperaviciute, Dalia ; Polychronopoulos, Dimitris ; Matchan, Angela ; Tavares, Ana L T ; Turnbull, Clare ; Leigh, Sarah ; Leong, Ivone U S ; Wright, Caroline F ; Davies, Jim ; Crichton, Charles ; Welch, James ; Abulhoul, Lara ; Aurora, Paul ; Cleary, Maureen A ; Footitt, Emma ; Ganesan, Vijeya ; Compeyrot-Lacassagne, Sandrine ; Pilkington, Clarissa ; Thapar, Nikhil ; Worth, Austen ; Compton, Cecilia ; Fassihi, Hiva ; Haque, Eshika ; Izatt, Louise ; Rose, Sarah ; Shaw, Adam C ; Wolejko, Agata ; Burns, Gavin ; Hunter, Sarah ; Grocock, Russell J ; Humphray, Sean J ; Robinson, Peter N ; Haendel, Melissa ; Simpson, Michael A ; Clayton-Smith, Jill ; Douzgou, Sofia ; Hall, Georgina ; O'Keefe, Raymond T ; Michaelides, Michel ; Pontikos, Nikolas ; Straub, Volker ; Gorman, Gráinne S ; Schaefer, Andrew M ; Yu-Wai-Man, Patrick ; McFarland, Robert ; Taylor, Robert W ; O'Connor, Emer ; Morris, Huw R ; Wood, Nicholas W ; Campbell, Carolyn ; Camps, Carme ; Koelling, Nils ; Palles, Claire ; Patel, Smita ; Sen, Arjune ; Taylor, John ; Cacheiro, Pilar ; Jacobsen, Julius O ; Seaby, Eleanor G ; Ellard, Sian ; Wilson, Gill ; Beales, Phil ; Black, Graeme ; Burn, John ; Chinnery, Patrick F ; Newman, William ; Rahman, Shamima ; Taylor, Jenny C ; Webster, Andrew R ; Wilkie, Andrew O M ; Ouwehand, Willem H ; Raymond, F Lucy ; Chisholm, John ; Hill, Sue ; Bentley, David ; Rendon, Augusto ; Caulfield, MarkThe New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotypeIzumi, Kosuke ; Brooks, Susan S. ; Feret, Holly A. ; Zackai, Elaine H.American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1535-1541 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysmLeutermann, Ruth ; Sheikhzadeh, Sara ; Brockstädt, Lars ; Rybczynski, Meike ; van Rahden, Vanessa ; Kutsche, Kerstin ; von Kodolitsch, Yskert ; Rosenberger, GeorgEuropean journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.944-948 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A 10 Patient Case Report on the Impact of Plasmapheresis Upon Neutralizing Factors Against Adeno-associated Virus (AAV) Types 1, 2, 6, and 8Monteilhet, Virginie ; Saheb, Samir ; Boutin, Sylvie ; Leborgne, Christian ; Veron, Philippe ; Montus, Marie-Françoise ; Moullier, Philippe ; Benveniste, Olivier ; Masurier, CaroleMolecular therapy, 2011-11, Vol.19 (11), p.2084-2091 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A 10-year observational study on the trends and determinants of smoking statusSamim, Daryoush ; Méan, Marie ; Clair, Carole ; Marques-Vidal, Pedro Niaura, RaymondPloS one, 2018-07, Vol.13 (7), p.e0200010-e0200010 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samplesBrøndum-Nielsen, K. ; Mikkelsen, M.Prenatal diagnosis, 1995-07, Vol.15 (7), p.615-619 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdSem texto completo |
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Material Type: Artigo
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A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patientsBen-Mustapha, Imen ; Ben-Ali, Meriem ; Mekki, Najla ; Patin, Etienne ; Harmant, Christine ; Bouguila, Jihène ; Elloumi-Zghal, Houda ; Harbi, Abdelaziz ; Béjaoui, Mohamed ; Boughammoura, Lamia ; Chemli, Jalel ; Barbouche, Mohamed-RidhaImmunogenetics (New York), 2014, Vol.66 (1), p.67-71 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |