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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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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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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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High type I error and misrepresentations in search for transgenerational epigenetic inheritance: response to Guerrero-BosagnaIqbal, Khursheed ; Tran, Diana A ; Li, Arthur X ; Warden, Charles ; Bai, Angela Y ; Singh, Purnima ; Madaj, Zach B ; Winn, Mary E ; Wu, Xiwei ; Pfeifer, Gerd P ; Szabó, Piroska EGenome Biology, 2016-07, Vol.17 (1), p.154-154, Article 154 [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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Material Type: Artigo
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Primary headache epidemiology in children and adolescents: a systematic review and meta-analysisOnofri, Agnese ; Pensato, Umberto ; Rosignoli, Chiara ; Wells-Gatnik, William ; Stanyer, Emily ; Ornello, Raffaele ; Chen, Hui Zhou ; De Santis, Federico ; Torrente, Angelo ; Mikulenka, Petr ; Monte, Gabriele ; Marschollek, Karol ; Waliszewska-Prosół, Marta ; Wiels, Wietse ; Boucherie, Deirdre M. ; Onan, Dilara ; Farham, Fatemeh ; Al-Hassany, Linda ; Sacco, SimonaJournal of headache and pain, 2023-02, Vol.24 (1), p.8-8, Article 8 [Periódico revisado por pares]Milan: Springer MilanTexto completo disponível |
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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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Cytogenetic analysis of 2959 couples with spontaneous abortion and detailed analysis of rare karyotypesMiao, Zong-Yu ; Liu, Xiao-Yan ; Wu, Hong ; Hou, Xiao-Fei ; Lv, Na ; Wang, Xin ; Shao, Hui-YuanJournal of genetics, 2022-06, Vol.101 (1), Article 10 [Periódico revisado por pares]New Delhi: Springer IndiaTexto completo disponível |