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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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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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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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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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Material Type: Artigo
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Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape ProvinceHorak, I.G ; Boomker, J ; Spickett, A.M ; De Vos, VOnderstepoort journal of veterinary research, 1992, Vol.59 (4), p.259-273 [Periódico revisado por pares]South AfricaSem texto completo |
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Material Type: Artigo
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 casesLu, Xinran ; Wang, Chaohong ; Sun, Yuxiu ; Tang, Junxiang ; Tong, Keting ; Zhu, JianshengMolecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing PopulationSamango-Sprouse, Carole ; Kırkızlar, Eser ; Hall, Megan P ; Lawson, Patrick ; Demko, Zachary ; Zneimer, Susan M ; Curnow, Kirsten J ; Gross, Susan ; Gropman, Andrea El-Maarri, OsmanPloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Which neurodevelopmental disorders get researched and why?Bishop, Dorothy V M Morty, Rory EdwardPloS one, 2010-11, Vol.5 (11), p.e15112 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic propertiesMonkhorst, Kim ; de Hoon, Bas ; Jonkers, Iris ; Mulugeta Achame, Eskeatnaf ; Monkhorst, Wouter ; Hoogerbrugge, Jos ; Rentmeester, Eveline ; Westerhoff, Hans V ; Grosveld, Frank ; Grootegoed, J Anton ; Gribnau, Joost Freitag, MichaelPloS one, 2009-05, Vol.4 (5), p.e5616-e5616 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative reviewRiggan, Kirsten A ; Ormond, Kelly E ; Allyse, Megan A ; Close, SharronBMC pediatrics, 2024-04, Vol.24 (1), p.263-263 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |