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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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47,XXX females, sex chromosomes, and tooth crown structureAlvesalo, L ; Tammisalo, E ; Therman, EHuman genetics, 1987-12, Vol.77 (4), p.345-348 [Periódico revisado por pares]GermanyTexto completo disponível |
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Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunctionSCHERER, G ; SCHEMPP, W ; FRACCARO, M ; BAUSCH, E ; BIGOZZI, V ; MARASCHIO, P ; MONTALI, E ; SIMONI, G ; WOLF, UHuman genetics, 1989-02, Vol.81 (3), p.247-251 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXYVOGEL, W ; GROMPE, M ; STORZ, R ; PENTZ, SHuman genetics, 1984-01, Vol.66 (4), p.367-369 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Prenatal Diagnosis of Congenital Diaphragmatic Hernia in a McFadden Kalousek Type 2 Triploid FetusBianca, S. ; Ettore, G. ; Gullotta, G. ; Galasso, M.G.Fetal diagnosis and therapy, 2004-01, Vol.19 (1), p.49-51 [Periódico revisado por pares]Basel, Switzerland: KargerTexto completo disponível |
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing PopulationSamango-Sprouse, Carole ; Kırkızlar, Eser ; Hall, Megan P ; Lawson, Patrick ; Demko, Zachary ; Zneimer, Susan M ; Curnow, Kirsten J ; Gross, Susan ; Gropman, Andrea El-Maarri, OsmanPloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testingWang, Yanlin ; Chen, Yan ; Tian, Feng ; Zhang, Jianguang ; Song, Zhuo ; Wu, Yi ; Han, Xu ; Hu, Wenjing ; Ma, Duan ; Cram, David ; Cheng, WeiweiClinical chemistry (Baltimore, Md.), 2014-01, Vol.60 (1), p.251-259 [Periódico revisado por pares]England: American Association for Clinical Chemistry, IncTexto completo disponível |
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Material Type: Artigo
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Which neurodevelopmental disorders get researched and why?Bishop, Dorothy V M Morty, Rory EdwardPloS one, 2010-11, Vol.5 (11), p.e15112 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Pandemic-induced changes in household-level food diversity and diet quality in the U.SSimandjuntak, Daniel P ; Jaenicke, Edward C ; Wrenn, Douglas H Gao, ZhifengPloS one, 2024-05, Vol.19 (5), p.e0300839 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Evaluating Pediatric Ophthalmic Care Using Sentiment Analysis of Physician Review SitesVought, Victoria ; Vought, Rita ; Sharma, Rahul ; Razdan, Geena ; Zhu, Lyndon ; Sutariya, Riya ; Wagner, Rudolph SJournal of pediatric ophthalmology and strabismus, 2024-05, Vol.61 (3), p.211-218 [Periódico revisado por pares]United States: Slack, IncTexto completo disponível |