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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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Mortality and incidence in women with 47,XXX and variantsStochholm, Kirstine ; Juul, Svend ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.367-372 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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VEGF(121)b, a new member of the VEGF(xxx)b family of VEGF-A splice isoforms, inhibits neovascularisation and tumour growth in vivoRennel, E S ; Varey, A H R ; Churchill, A J ; Wheatley, E R ; Stewart, L ; Mather, S ; Bates, D O ; Harper, S JBritish journal of cancer, 2009-10, Vol.101 (7), p.1183 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association between C-reactive protein (CRP) gene polymorphisms and vascular eventsSzalai, A. J. ; Alarcón, G. S. ; Calvo-Alén, J. ; Toloza, S. M. A. ; McCrory, M. A. ; Edberg, J. C. ; McGwin, G. ; Bastian, H. M. ; Fessler, B. J. ; Vilá, L. M. ; Kimberly, R. P. ; Reveille, J. D.Rheumatology (Oxford, England), 2005-07, Vol.44 (7), p.864-868 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Doctors’ experiences of adverse events in secondary care: the professional and personal impactHarrison, Reema ; Lawton, Rebecca ; Stewart, KevinClinical medicine (London, England), 2014-12, Vol.14 (6), p.585-590 [Periódico revisado por pares]London: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Retrieval of aneuploidy by FISH-technique in a case with 46,XX/47,XXX/47,XX,+8Journal of human genetics, 1996-03, Vol.41 (1), p.215-219 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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CUTIS VERTICIS GYRATA IN A WOMAN WITH SUPERNUMERARY X CHROMOSOMES (46,XX/47,XXX/48,XXXX)Olanders, Staffan ; Wålinder, JanActa psychiatrica Scandinavica, 1970-01, Vol.46 (2), p.120-125, Article 120 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Mixed Connective Tissue Disease associated with Multicentric Castleman's DiseaseNanki, T. ; Tomiyama, J. ; Aral, S.Scandinavian journal of rheumatology, 1994, Vol.23 (4), p.215-217 [Periódico revisado por pares]Colchester: Informa UK LtdTexto completo disponível |
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Material Type: Artigo
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The impact of genetic polymorphisms, diltiazem, and demographic variables on everolimus trough concentrations in lung transplant recipientsSchoeppler, Kelly E. ; Aquilante, Christina L. ; Kiser, Tyree H. ; Fish, Douglas N. ; Zamora, Martin R.Clinical transplantation, 2014-05, Vol.28 (5), p.590-597 [Periódico revisado por pares]Denmark: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in ChinaLuo, Yanmei ; Hu, Huamei ; Zhang, Rong ; Ma, Yongyi ; Pan, Yan ; Long, Yang ; Hu, Bin ; Yao, Hong ; Liang, ZhiqingThe journal of gene medicine, 2021-09, Vol.23 (9), p.e3362-n/a [Periódico revisado por pares]England: Wiley Periodicals IncTexto completo disponível |