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1 |
Material Type: Artigo
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N‐Terminal Cu‐Binding Motifs (Xxx‐Zzz‐His, Xxx‐His) and Their Derivatives: Chemistry, Biology and Medicinal ApplicationsGonzalez, Paulina ; Bossak, Karolina ; Stefaniak, Ewelina ; Hureau, Christelle ; Raibaut, Laurent ; Bal, Wojciech ; Faller, PeterChemistry : a European journal, 2018-06, Vol.24 (32), p.8029-8041 [Periódico revisado por pares]Germany: Wiley Subscription Services, IncTexto completo disponível |
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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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3 |
Material Type: Artigo
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Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attentionBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Wilson, Rebecca L. ; Van der velde, Kim ; van Rijn, SophieEuropean child & adolescent psychiatry, 2023-11, Vol.32 (11), p.2323-2334 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY)van Rijn, SophieCurrent opinion in psychiatry, 2019-03, Vol.32 (2), p.79-84 [Periódico revisado por pares]United States: Copyright Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |
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Material Type: Artigo
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Detection of 69,XXX karyotype in circulating trophoblasts using fluorescence in‐situ hybridization after enrichment using novel high‐throughput microfluidic platformSonek, J. ; Muller, R. ; Pfau, R. ; Buchanan, P.Ultrasound in obstetrics & gynecology, 2021-04, Vol.57 (4), p.650-651 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic reviewLEGGETT, VICTORIA ; JACOBS, PATRICIA ; NATION, KATE ; SCERIF, GAIA ; BISHOP, DOROTHY V MDevelopmental medicine and child neurology, 2010-02, Vol.52 (2), p.119-129 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old childrenBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Jansen, Anna C. ; Rijn, SophieAmerican journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.1943-1953 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX femalesNielsen, Morten Muhlig ; Trolle, Christian ; Vang, Søren ; Hornshøj, Henrik ; Skakkebæk, Anne ; Hedegaard, Jakob ; Nordentoft, Iver ; Pedersen, Jakob Skou ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.279-293Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Quality and Safety in Health Care, Part XXX: Transcatheter Aortic Valve TherapyHarolds, Jay AClinical nuclear medicine, 2017-12, Vol.42 (12), p.928-929 [Periódico revisado por pares]United States: Copyright Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |
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10 |
Material Type: Artigo
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Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYYAhlawat, Nivedita ; Elliott, Kathryn ; Ormond, Kelly E. ; Allyse, Megan A. ; Riggan, Kirsten A.Journal of community genetics, 2024-02, Vol.15 (1), p.75-83 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |