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1 |
Material Type: Artigo
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort studyBerglund, Agnethe ; Viuff, Mette Hansen ; Skakkebæk, Anne ; Chang, Simon ; Stochholm, Kirstine ; Gravholt, Claus HøjbjergOrphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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2 |
Material Type: Artigo
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXXPandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E.Genes, 2021-06, Vol.12 (6), p.798 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |
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3 |
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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4 |
Material Type: Artigo
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The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidyTartaglia, Nicole ; Howell, Susan ; Wilson, Rebecca ; Janusz, Jennifer ; Boada, Richard ; Martin, Sydney ; Frazier, Jacqueline B ; Pfeiffer, Michelle ; Regan, Karen ; McSwegin, Sarah ; Zeitler, PhilipJournal of multidisciplinary healthcare, 2015, Vol.8 (default), p.323-334 [Periódico revisado por pares]New Zealand: Dove Medical Press LimitedTexto completo disponível |
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5 |
Material Type: Artigo
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Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21Park, V M ; Bravo, R R ; Shulman, L PJournal of medical genetics, 1995-08, Vol.32 (8), p.650-653 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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6 |
Material Type: Artigo
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The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populationsRossi, M S ; Barrio, E ; Latorre, A ; Quezada-Díaz, J E ; Hasson, E ; Moya, A ; Fontdevila, AMolecular biology and evolution, 1996-02, Vol.13 (2), p.314-323 [Periódico revisado por pares]United StatesTexto completo disponível |
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7 |
Material Type: Artigo
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47,XXX females, sex chromosomes, and tooth crown structureAlvesalo, L ; Tammisalo, E ; Therman, EHuman genetics, 1987-12, Vol.77 (4), p.345-348 [Periódico revisado por pares]GermanyTexto completo disponível |
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8 |
Material Type: Artigo
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Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunctionSCHERER, G ; SCHEMPP, W ; FRACCARO, M ; BAUSCH, E ; BIGOZZI, V ; MARASCHIO, P ; MONTALI, E ; SIMONI, G ; WOLF, UHuman genetics, 1989-02, Vol.81 (3), p.247-251 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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9 |
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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10 |
Material Type: Artigo
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A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXYVOGEL, W ; GROMPE, M ; STORZ, R ; PENTZ, SHuman genetics, 1984-01, Vol.66 (4), p.367-369 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |