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Material Type: Artigo
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10 families with benign familial hematuria. Considerations on prevalence, genetics and clinical and urine characteristicsLi Volti, S ; D'Avola, M A ; Mollica, FMinerva pediatrica, 1989-07, Vol.41 (7), p.367-370ItalyTexto completo disponível |
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Material Type: Artigo
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16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic studyOuyang, Y. ; Sakoe, K. ; Shimazaki, H. ; Namekawa, M. ; Ogawa, T. ; Ando, Y. ; Kawakami, T. ; Kaneko, J. ; Hasegawa, Y. ; Yoshizawa, K. ; Amino, T. ; Ishikawa, K. ; Mizusawa, H. ; Nakano, I. ; Takiyama, Y.Journal of the neurological sciences, 2006-09, Vol.247 (2), p.180-186 [Periódico revisado por pares]Shannon: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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17q-Linked Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Without Tau Mutations With Tau and α-Synuclein InclusionsWilhelmsen, Kirk C ; Forman, Mark S ; Rosen, Howard J ; Alving, Loren I ; Goldman, Jill ; Feiger, Jennie ; Lee, James V ; Segall, Samantha K ; Kramer, Joel H ; Lomen-Hoerth, Catherine ; Rankin, Katherine P ; Johnson, Julene ; Feiler, Heidi S ; Weiner, Michael W ; Lee, Virginia M.-Y ; Trojanowski, John Q ; Miller, Bruce LArchives of neurology (Chicago), 2004-03, Vol.61 (3), p.398-406Chicago, IL: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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[18F]FDOPA PET as an endophenotype for Parkinson's Disease linkage studiesRacette, Brad A. ; Good, Laura ; Antenor, Jo Ann ; McGee-Minnich, Lori ; Moerlein, Stephen M. ; Videen, Tom O. ; Perlmutter, Joel S.American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-04, Vol.141B (3), p.245-249 [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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22-year longitudinal study of repetitive colonoscopy in patients with a family history of colorectal cancerRandall, J K ; Good, C S ; Gilbert, J MAnnals of the Royal College of Surgeons of England, 2013-11, Vol.95 (8), p.586-590 [Periódico revisado por pares]England: Royal College of SurgeonsTexto completo disponível |
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Material Type: Artigo
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3-years' study of family contacts of HBsAg+ individualsPazdiora, P ; Brejcha, O ; Kubátová, A ; Morávková, I ; Ouradová, R ; Prechová, M ; Spácilová, M ; Turková, DČasopis lékařů českých, 2001-06, Vol.140 (13), p.397 [Periódico revisado por pares]Czech RepublicSem texto completo |
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Material Type: Artigo
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4 families with silent cholinesterase variantMoreno Monedero, M J ; Acevedo León, D ; Caballero Ramón, S ; Vidal Martínez, J ; Moral Baltuille, A ; Perales Tortosa, G ; Casas Terrón, E ; Gil Minguillón, CRevista española de anestesiología y reanimación, 1990-05, Vol.37 (3), p.164 [Periódico revisado por pares]SpainSem texto completo |
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Material Type: Artigo
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459C>T point mutation in 5′ non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathyLi, Miaoxin ; Cheng, Tat-Sun ; Ho, Philip W.-L. ; Chan, Koon-Ho ; Mak, Windsor ; Cheung, Raymond T.-F. ; Ramsden, David B. ; Sham, Pak-Chung ; Song, Youqiang ; Ho, Shu-LeongJournal of the peripheral nervous system, 2009-03, Vol.14 (1), p.14-21 [Periódico revisado por pares]Malden, USA: Blackwell Publishing IncTexto completo disponível |
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Material Type: Artigo
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5-ht2c receptor and mao-a interaction analysis: no association with suicidal behaviour in bipolar patientsDe Luca, Vincenzo ; Tharmaligam, Subi ; Strauss, John ; Kennedy, James L.European archives of psychiatry and clinical neuroscience, 2008-10, Vol.258 (7), p.428-433 [Periódico revisado por pares]Dordrecht: D. Steinkopff-VerlagTexto completo disponível |
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Material Type: Artigo
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5-HT3 receptor influences the washing phenotype and visual organization in obsessive-compulsive disorder supporting 5-HT3 receptor antagonists as novel treatment optionLennertz, Leonhard ; Wagner, Michael ; Grabe, Hans Jörgen ; Franke, Petra E ; Guttenthaler, Vera ; Rampacher, Friederike ; Schulze-Rauschenbach, Svenja ; Vogeley, Andrea ; Benninghoff, Jens ; Ruhrmann, Stephan ; Pukrop, Ralf ; Klosterkötter, Joachim ; Falkai, Peter ; Maier, Wolfgang ; Mössner, RainaldEuropean neuropsychopharmacology, 2014-01, Vol.24 (1), p.86-94 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |