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Material Type: Artigo
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeSybert, V PJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Partial Epilepsy and 47,XXX Karyotype: Report of Four CasesRoubertie, Agathe ; Humbertclaude, Véronique ; Leydet, Julie ; Lefort, Geneviève ; Echenne, BernardPediatric neurology, 2006-07, Vol.35 (1), p.69-74 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Rett syndrome in a 47,XXX patient with a de novo MECP2 mutationHammer, Sara ; Dorrani, Naghmeh ; Hartiala, Jaana ; Stein, Stuart ; Schanen, N. CarolynAmerican journal of medical genetics, 2003-10, Vol.122A (3), p.223-226 [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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Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old childDean, J ; Cohen, G ; Kemp, J ; Robson, L ; Tembe, V ; Hasselaar, J ; Webster, B ; Lammi, A ; Smith, AJournal of medical genetics, 1997-03, Vol.34 (3), p.246-249 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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47,XXX male: A clinical and molecular studyOgata, Tsutomu ; Matsuo, Mari ; Muroya, Koji ; Koyama, Yasuhiro ; Fukutani, KeikoAmerican journal of medical genetics, 2001-02, Vol.98 (4), p.353-356 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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The growth of XXX females: population-based studiesRatcliffe, S.G. ; Pan, H. ; McKie, M.Annals of human biology, 1994, Vol.21 (1), p.57-66 [Periódico revisado por pares]London: Informa UK LtdSem texto completo |
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Material Type: Artigo
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An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunctionANNEREN, G ; ANDERSSON, M ; PAGE, D. C ; BROWN, L. G ; BERG, M ; LACKGREN, G ; GUSTAVSON, K.-H ; DE LA CHAPELLE, AAmerican journal of human genetics, 1987-10, Vol.41 (4), p.594-604 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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Material Type: Artigo
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Duchenne muscular dystrophy in a girl with a 45, X/46, XX/47, XXX chromosome constitutionBortolini, Eliete Rabbi ; da Silva, Déa Martins ; Chequer, Rosemary Santos ; Vianna-Morgante, Angela M. ; Zatz, Mayana ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1986-10, Vol.25 (2), p.239-243New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the NetherlandsHochstenbach, Ron ; van Binsbergen, Ellen ; Engelen, John ; Nieuwint, Aggie ; Polstra, Abeltje ; Poddighe, Pino ; Ruivenkamp, Claudia ; Sikkema-Raddatz, Birgit ; Smeets, Dominique ; Poot, MartinEuropean journal of medical genetics, 2009-07, Vol.52 (4), p.161-169 [Periódico revisado por pares]Amsterdam: Elsevier Masson SASTexto completo disponível |
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Material Type: Artigo
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Complications of craniofacial resection for malignant tumors of the skull base: Report of an International Collaborative StudyGanly, Ian ; Patel, Snehal G. ; Singh, Bhuvanesh ; Kraus, Dennis H. ; Bridger, Patrick G. ; Cantu, Giulo ; Cheesman, Anthony ; De Sa, Geraldo ; Donald, Paul ; Fliss, Dan ; Gullane, Patrick ; Janecka, Ivo ; Kamata, Shin-etsu ; Kowalski, Luiz P. ; Levine, Paul ; Medina, Luiz R. ; Pradhan, Sultan ; Schramm, Victor ; Snyderman, Carl ; Wei, William I. ; Shah, Jatin P.Head & neck, 2005-06, Vol.27 (6), p.445-451 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |