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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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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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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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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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Presentation and Outcomes of C4d‐Negative Antibody‐Mediated Rejection After Kidney TransplantationOrandi, B. J. ; Alachkar, N. ; Kraus, E. S. ; Naqvi, F. ; Lonze, B. E. ; Lees, L. ; Van Arendonk, K. J. ; Wickliffe, C. ; Bagnasco, S. M. ; Zachary, A. A. ; Segev, D. L. ; Montgomery, R. A.American journal of transplantation, 2016-01, Vol.16 (1), p.213-220 [Periódico revisado por pares]United StatesTexto completo disponível |
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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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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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Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospitalYao, H. ; Jiang, F. ; Hu, H. ; Gao, Y. ; Zhu, Z. ; Zhang, H. ; Wang, Y. ; Guo, Y. ; Liu, L. ; Yuan, Y. ; Zhou, L. ; Wang, J. ; Du, B. ; Qu, N. ; Zhang, R. ; Dong, Y. ; Xu, H. ; Chen, F. ; Jiang, H. ; Liu, Y. ; Zhang, L. ; Tian, Z. ; Liu, Q. ; Zhang, C. ; Pan, X. ; Yang, S. ; Zhao, L. ; Wang, W. ; Liang, Z.Ultrasound in obstetrics & gynecology, 2014-07, Vol.44 (1), p.17-24 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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VEGF in the lung: a role for novel isoformsVaret, Julia ; Douglas, Samantha K ; Gilmartin, Laura ; Medford, Andrew R L ; Bates, David O ; Harper, Steven J ; Millar, Ann BAmerican journal of physiology. Lung cellular and molecular physiology, 2010-06, Vol.298 (6), p.L768-L774 [Periódico revisado por pares]United States: American Physiological SocietyTexto completo disponível |
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Material Type: Artigo
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersOetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D HNature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |