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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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Ultrafast Laser Patterning of Metals Commonly Used in Medical Industry: Surface Roughness Control with Energy Gradient Pulse SequencesLeggio, Luca ; Di Maio, Yoan ; Pascale-Hamri, Alina ; Egaud, Gregory ; Reynaud, Stephanie ; Sedao, Xxx ; Mauclair, CyrilMicromachines (Basel), 2023-01, Vol.14 (2), p.251 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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47XXY and 47XXX in Scleroderma and MyositisScofield, R. Hal ; Lewis, Valerie M. ; Cavitt, Joshua ; Kurien, Biji T. ; Assassi, Shervin ; Martin, Javier ; Gorlova, Olga ; Gregersen, Peter ; Lee, Annette ; Rider, Lisa G. ; O'Hanlon, Terrance ; Rothwell, Simon ; Lilleker, James ; Kochi, Yuta ; Terao, Chikacshi ; Igoe, Ann ; Stevens, Wendy ; Sahhar, Joanne ; Roddy, Janet ; Rischmueller, Maureen ; Lester, Sue ; Proudman, Susanna ; Chen, Sixia ; Brown, Matthew A. ; Mayes, Maureen D. ; Lamb, Janine A. ; Miller, Frederick W.ACR Open Rheumatology, 2022-06, Vol.4 (6), p.528-533 [Periódico revisado por pares]Boston, USA: Wiley Periodicals, IncTexto completo disponível |
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Material Type: Artigo
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Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesisVorsanova, Svetlana G ; Kolotii, Alexey D ; Kurinnaia, Oksana S ; Kravets, Victor S ; Demidova, Irina A ; Soloviev, Ilya V ; Yurov, Yuri B ; Iourov, Ivan YMolecular cytogenetics, 2021-02, Vol.14 (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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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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Hormonal signal amplification mediates environmental conditions during development and controls an irreversible commitment to adulthoodSchaedel, Oren N ; Gerisch, Birgit ; Antebi, Adam ; Sternberg, Paul W Ruvkun, GaryPLoS Biology, 2012-04, Vol.10 (4), p.e1001306-e1001306 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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A study on chromosomal analysis of patients with primary amenorrheaPal, Asoke ; Ambulkar, Prafulla ; Sontakke, Bharat ; Talhar, Shweta ; Bokariya, Pradeep ; Gujar, VijayJournal of human reproductive sciences, 2019-01, Vol.12 (1), p.29-34 [Periódico revisado por pares]India: Wolters Kluwer India Pvt. LtdTexto completo disponível |
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Material Type: Artigo
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Patterns of psychopathology and cognition in sex chromosome aneuploidyRau, Srishti ; Whitman, Ethan T ; Schauder, Kimberly ; Gogate, Nikhita ; Lee, Nancy Raitano ; Kenworthy, Lauren ; Raznahan, ArminJournal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.61-61, Article 61 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Differentiation of primordial germ cells from premature ovarian insufficiency-derived induced pluripotent stem cellsYang, Sheng ; Ding, Shufang ; He, Shiwei ; He, Lixia ; Gao, Kefei ; Peng, Shuping ; Shuai, CijunStem cell research & therapy, 2019-05, Vol.10 (1), p.156-156, Article 156 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |