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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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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 casesLu, Xinran ; Wang, Chaohong ; Sun, Yuxiu ; Tang, Junxiang ; Tong, Keting ; Zhu, JianshengMolecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literatureDemily, Caroline ; Poisson, Alice ; Peyroux, Elodie ; Gatellier, Valérie ; Nicolas, Alain ; Rigard, Caroline ; Schluth-Bolard, Caroline ; Sanlaville, Damien ; Rossi, MassimilianoBMC medical genetics, 2017-01, Vol.18 (1), p.9-9, Article 9 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid culturesGartler, Stanley M ; Varadarajan, Kartik R ; Luo, Ping ; Norwood, Thomas H ; Canfield, Theresa K ; Hansen, R ScottBMC genetics, 2006-07, Vol.7 (1), p.41-41, Article 41 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocasesLyssenko, Nicholas N ; Miteva, Yana ; Gilroy, Simon ; Hanna-Rose, Wendy ; Schlegel, Robert ABMC developmental biology, 2008-10, Vol.8 (1), p.96-96, Article 96 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndromeJoseph, Lisa ; Farmer, Cristan ; Chlebowski, Colby ; Henry, Laura ; Fish, Ari ; Mankiw, Catherine ; Xenophontos, Anastasia ; Clasen, Liv ; Sauls, Bethany ; Seidlitz, Jakob ; Blumenthal, Jonathan ; Torres, Erin ; Thurm, Audrey ; Raznahan, ArminJournal of neurodevelopmental disorders, 2018-10, Vol.10 (1), p.30-30, Article 30 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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7 |
Material Type: Artigo
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The efficacy and safety of combined administration of intravenous and topical tranexamic acid in primary total knee arthroplasty: a meta-analysis of randomized controlled trialsXiong, Huazhang ; Liu, Yi ; Zeng, Yi ; Wu, Yuangang ; Shen, BinBMC musculoskeletal disorders, 2018-09, Vol.19 (1), p.321-321, Article 321 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Childhood-onset primary Sjögren's syndrome in a tertiary center in China: clinical features and outcomeGong, Yinv ; Liu, Haimei ; Li, Guomin ; Zhang, Tao ; Li, Yifan ; Guan, Wanzhen ; Zeng, Qiaoqian ; Lv, Qianying ; Zhang, Xiaomei ; Yao, Wen ; Shi, Yu ; Xu, Hong ; Sun, LiPediatric rheumatology online journal, 2023-01, Vol.21 (1), p.11-11, Article 11 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Perceptions of the COVID-19 pandemic: a qualitative study with South African adultsSilubonde, Takana M ; Knight, Lucia ; Norris, Shane A ; van Heerden, Alastair ; Goldstein, Susan ; Draper, Catherine EBMC public health, 2023-04, Vol.23 (1), p.684-684, Article 684 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndromeMcCabe, Kathryn L ; Popa, Abbie M ; Durdle, Courtney ; Amato, Michele ; Cabaral, Margarita H ; Cruz, Joshua ; Wong, Ling M ; Harvey, Danielle ; Tartaglia, Nicole ; Simon, Tony JJournal of neurodevelopmental disorders, 2019-12, Vol.11 (1), p.40-40, Article 40 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |