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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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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXXPandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E.Genes, 2021-06, Vol.12 (6), p.798 [Periódico revisado por pares]Basel: MDPI AGTexto 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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Relationship between surgical time and postoperative complications in senile patients with hip fractures马韧石 谷贵山 王成学 朱东 张西正Chinese journal of traumatology, 2010-06, Vol.13 (3), p.167-172 [Periódico revisado por pares]China: Elsevier B.VTexto 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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Material Type: Artigo
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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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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 |
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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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Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]Yu, Heguo ; Diao, Hua ; Wang, Chunmei ; Lin, Yan ; Yu, Fudong ; Lu, Hui ; Xu, Wei ; Li, Zheng ; Shi, Huijuan ; Zhao, Shimin ; Zhou, Yuchuan ; Zhang, YonglianMolecular & cellular proteomics, 2015-04, Vol.14 (4), p.1009-1023 [Periódico revisado por pares]United States: Elsevier IncTexto 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 |