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1 |
Material Type: Artigo
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47,XXX chromosome constitution in a maleBigozzi, U ; Simoni, G ; Montali, E ; Dalpra, L ; Rossella, F ; Piazzini, M ; Borghi, AJournal of medical genetics, 1980-02, Vol.17 (1), p.62-66 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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53BP1 Cooperates with p53 and Functions as a Haploinsufficient Tumor Suppressor in MiceWard, Irene M. ; Difilippantonio, Simone ; Minn, Kay ; Mueller, Melissa D. ; Molina, Julian R. ; Yu, Xiaochun ; Frisk, Craig S. ; Ried, Thomas ; Nussenzweig, Andre ; Chen, JunjieMolecular and Cellular Biology, 2005-11, Vol.25 (22), p.10079-10086 [Periódico revisado por pares]United States: American Society for MicrobiologyTexto completo disponível |
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Material Type: Artigo
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Analysis of non-crossover bivalents in pachytene cells from 10 normal menSun, Fei ; Oliver-Bonet, M ; Liehr, T ; Starke, H ; Turek, P ; Ko, E ; Rademaker, A ; Martin, R.HHuman reproduction (Oxford), 2006-09, Vol.21 (9), p.2335-2339 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Autism, language and communication in children with sex chromosome trisomiesBishop, Dorothy V M ; Jacobs, Patricia A ; Lachlan, Katherine ; Wellesley, Diana ; Barnicoat, Angela ; Boyd, Patricia A ; Fryer, Alan ; Middlemiss, Prisca ; Smithson, Sarah ; Metcalfe, Kay ; Shears, Deborah ; Leggett, Victoria ; Nation, Kate ; Scerif, GaiaArchives of disease in childhood, 2011-10, Vol.96 (10), p.954-959 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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Material Type: Artigo
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Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndromeTaylor, A IJournal of medical genetics, 1968-09, Vol.5 (3), p.227-252 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Chromosomal abnormalities and congenital heart diseaseEmerit, I ; de Grouchy, J ; Vernant, P ; Corone, PCirculation (New York, N.Y.), 1967-12, Vol.36 (6), p.886-905 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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CHROMOSOMAL ABNORMALITIES AND SEX RATIO IN RABBIT BLASTOCYSTSFechheimer, N S ; Beatty, R AJournal of reproduction & fertility, 1974-04, Vol.37 (2), p.331-341 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Chromosome studies in a neonatal populationHamerton, J L ; Ray, M ; Abbott, J ; Williamson, C ; Ducasse, G CCanadian Medical Association journal, 1972-04, Vol.106 (7), p.776-779 [Periódico revisado por pares]CanadaTexto completo disponível |
9 |
Material Type: Artigo
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Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of FallotRauch, Ralf ; Hofbeck, Michael ; Zweier, Christiane ; Koch, Andreas ; Zink, Stefan ; Trautmann, Udo ; Hoyer, Juliane ; Kaulitz, Renate ; Singer, Helmut ; Rauch, AnitaJournal of medical genetics, 2010-05, Vol.47 (5), p.321-331 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
10 |
Material Type: Artigo
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Creation of a registry for human embryonic stem cells carrying an inherited defect: joint collaboration between ESHRE and hESCregSermon, K.D. ; Simon, C. ; Braude, P. ; Viville, S. ; Borstlap, J. ; Veiga, A.Human reproduction (Oxford), 2009-07, Vol.24 (7), p.1556-1560 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |