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Material Type: Artigo
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Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case reportLiang, Dong ; Han, Minmin ; Xu, Linxin ; Ren, Yi ; Zhang, Yi ; Yin, Jianhong ; Yang, Jing ; Liu, YunfengMedicine (Baltimore), 2022-10, Vol.101 (43), p.e31443-e31443 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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A case‐control study of brain structure and behavioral characteristics in 47,XXX syndromeLenroot, R. K. ; Blumenthal, J. D. ; Wallace, G. L. ; Clasen, L. S. ; Lee, N. R. ; Giedd, J. N.Genes, brain and behavior, 2014-11, Vol.13 (8), p.841-849 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYYTARTAGLIA, Nicole R ; AYARI, Natalie ; HUTAFF-LEE, Christa ; BOADA, RichardJournal of developmental and behavioral pediatrics, 2012-05, Vol.33 (4), p.309-318 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisWigby, Kristen ; D'Epagnier, Cheryl ; Howell, Susan ; Reicks, Amy ; Wilson, Rebecca ; Cordeiro, Lisa ; Tartaglia, NicoleAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto 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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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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Material Type: Artigo
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Liver biochemical abnormalities in Turner syndrome: A comprehensive characterization of an adult populationCalanchini, Matilde ; Moolla, Ahmad ; Tomlinson, Jeremy W. ; Cobbold, Jeremy F. ; Grossman, Ashley ; Fabbri, Andrea ; Turner, Helen E.Clinical endocrinology (Oxford), 2018-11, Vol.89 (5), p.667-676 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Antiangiogenic isoforms of vascular endothelial growth factor predominate in subretinal fluid of patients with rhegmatogenous retinal detachment and proliferative vitreoretinopathyRicker, Lukas J A G ; Dieudonné, Suzanne C ; Kessels, Alfons G H ; Rennel, Emma S ; Berendschot, Tos T J M ; Hendrikse, Fred ; Kijlstra, Aize ; La Heij, Ellen CRetina (Philadelphia, Pa.), 2012-01, Vol.32 (1), p.54-59 [Periódico revisado por pares]United StatesTexto 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 |
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Material Type: Artigo
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Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndromeViuff, Mette Hansen ; Stochholm, Kirstine ; Uldbjerg, Niels ; Nielsen, Birgitte Bruun ; Gravholt, Claus HøjbjergHuman reproduction (Oxford), 2015-10, Vol.30 (10), p.2419-2426 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |