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1 |
Material Type: Artigo
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A review of trisomy X (47,XXX)Tartaglia, Nicole R ; Howell, Susan ; Sutherland, Ashley ; Wilson, Rebecca ; Wilson, LennieOrphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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2 |
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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3 |
Material Type: Artigo
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Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging studySerrarens, Chaira ; Otter, Maarten ; Campforts, Bea C M ; Stumpel, Constance T R M ; Jansma, Henk ; van Amelsvoort, Thérèse A M J ; Vingerhoets, ClaudiaJournal of neurodevelopmental disorders, 2022-02, Vol.14 (1), p.14-14, Article 14 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Early Preventive Intervention for Young Children With Sex Chromosome Trisomies (XXX, XXY, XYY): Supporting Social Cognitive Development Using a Neurocognitive Training Program Targeting Facial Emotion UnderstandingBouw, Nienke ; Swaab, Hanna ; van Rijn, SophieFrontiers in psychiatry, 2022-02, Vol.13, p.807793-807793 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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5 |
Material Type: Artigo
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The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking studyBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; van Rijn, SophieJournal of neurodevelopmental disorders, 2022-08, Vol.14 (1), p.44-44, Article 44 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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6 |
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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7 |
Material Type: Artigo
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literatureTang, Ruiyi ; Lin, Lin ; Guo, Zaixin ; Hou, Haiyan ; Yu, QiMolecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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8 |
Material Type: Artigo
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Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotypeVergara-Mendez, Laura Daniela ; Talero-Gutiérrez, Claudia ; Velez-Van-Meerbeke, AlbertoJournal of genetics, 2018-03, Vol.97 (1), p.337-340 [Periódico revisado por pares]New Delhi: Springer IndiaTexto completo disponível |
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9 |
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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10 |
Material Type: Artigo
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Gene Delivery to Joints by Intra-Articular InjectionEvans, Christopher H ; Ghivizzani, Steven C ; Robbins, Paul DHuman gene therapy, 2018-01, Vol.29 (1), p.2-14 [Periódico revisado por pares]United States: Mary Ann Liebert, IncTexto completo disponível |