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Material Type: Artigo
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Genetic significance of skewed X-chromosome inactivation in premature ovarian failureSato, Kazuyo ; Uehara, Shigeki ; Hashiyada, Masaki ; Nabeshima, Hiroshi ; Sugawara, Jun-ichi ; Terada, Yukihiro ; Yaegashi, Nobuo ; Okamura, KunihiroAmerican journal of medical genetics, 2004-10, Vol.130A (3), p.240-244 [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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Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999Forrester, Mathias B. ; Merz, Ruth D.American journal of medical genetics, 2003-06, Vol.119A (3), p.305-310 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
Material Type: Artigo
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Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetusesSonnesen, Liselotte ; Nolting, Dorrit ; Engel, Ulla ; Kjær, IngerAmerican journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.177-187 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Turner syndrome: Evaluation of prenatal diagnosis in 19 European registriesBaena, Neus ; De Vigan, C. ; Cariati, E. ; Clementi, M. ; Stoll, C. ; Caballín, M.R. ; Guitart, M.American journal of medical genetics, 2004-08, Vol.129A (1), p.16-20 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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5 |
Material Type: Artigo
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Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two casesLe Caignec, Cédric ; De Mas, Philippe ; Vincent, Marie‐Claire ; Bocéno, Michelle ; Bourrouillou, Georges ; Rival, Jean‐Marie ; David, AlbertAmerican journal of medical genetics, 2005-01, Vol.132A (2), p.175-180 [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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Diaphragmatic hernia in 18p- syndromeStrenge, Sibylle ; Froster, Ursula G.American journal of medical genetics, 2004-02, Vol.125A (1), p.97-99 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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7 |
Material Type: Artigo
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Clinical report of congenital lymphatic malformations and partial gigantism of the hands associated with a heterogeneous karyotypeWang, Zhe ; Li, Qing ; Huang, Gao-Sheng ; Liu, Shu-Juan ; Guo, Hua-Zhang ; Zhang, Jing ; Cheng, Hong ; Xu, Jian ; Barenboim-Stapleton, Linda ; Ried, ThomasAmerican journal of medical genetics, 2005-01, Vol.132A (1), p.106-107 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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8 |
Material Type: Artigo
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Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosisLakovschek, Ioana Claudia ; Streubel, Berthold ; Ulm, BarbaraAmerican journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2626-2633 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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9 |
Material Type: Artigo
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Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009Morris, Joan K. ; Alberman, Eva ; Mutton, David ; Jacobs, PatriciaAmerican journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1151-1157 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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10 |
Material Type: Artigo
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Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndromeStochholm, Kirstine ; Juul, Svend ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2421-2429 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |