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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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47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovariesRafique, Munazzah ; AlObaid, Solaiman ; Al‐Jaroudi, DaniaClinical case reports, 2019-06, Vol.7 (6), p.1238-1241 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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LP-105 Synergistic effect of extra X chromosome in the development of systemic lupus erythematosus in klinefelter syndrome karyotype 47, XXY and karyotype 47, XXX femalesTan, Irene J ; Khandwala, Pushti ; Sen, MitaliLupus science & medicine, 2023-07, Vol.10 (Suppl 1), p.A127-A127 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literatureTang, Ruiyi ; Lin, Lin ; Guo, Zaixin ; Hou, Haiyan ; Yu, QiMolecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto 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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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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Usefulness of combined NGS and QF‐PCR analysis for product of conception karyotypingKato, Takema ; Miyai, Shunsuke ; Suzuki, Hideki ; Murase, Yuuri ; Ota, Shiyo ; Yamauchi, Hiroko ; Ammae, Michiko ; Nakano, Tatsuya ; Nakaoka, Yoshiharu ; Inoue, Tomoko ; Morimoto, Yoshiharu ; Fukuda, Aisaku ; Utsunomiya, Takafumi ; Nishizawa, Haruki ; Kurahashi, HirokiReproductive medicine and biology, 2022-01, Vol.21 (1), p.e12449-n/a [Periódico revisado por pares]Japan: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Egyptian urinary stones in the COVID-19 outbreak: a multi-center studykotb, Sameh ; Ezzat, Mohamed ; Galal Elsheikh, Mohamed ; Mohamed Elshorbagy, GalalAfrican journal of urology, 2024-12, Vol.30 (1), p.16-6, Article 16 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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PCGF3/5–PRC1 initiates Polycomb recruitment in X chromosome inactivationAlmeida, Mafalda ; Pintacuda, Greta ; Masui, Osamu ; Koseki, Yoko ; Gdula, Michal ; Cerase, Andrea ; Brown, David ; Mould, Arne ; Innocent, Cassandravictoria ; Nakayama, Manabu ; Schermelleh, Lothar ; Nesterova, Tatyana B. ; Koseki, Haruhiko ; Brockdorff, NeilScience (American Association for the Advancement of Science), 2017-06, Vol.356 (6342), p.1081-1084 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, PakistanKhan, Sarah ; Tafweez, Raafea ; Haider, Areiba ; Yaqoob, MuhammadPakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Periódico revisado por pares]Pakistan: Knowledge BylanesTexto completo disponível |