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1 |
Material Type: Artigo
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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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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 |
3 |
Material Type: Artigo
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45,X/47,XXX Mosaicism and Short StatureEverest, Erica ; Tsilianidis, Laurie A. ; Haider, Anzar ; Rogers, Douglas G. ; Raissouni, Nouhad ; Schweiger, Bahareh Cogulu, OzgurCase reports in pediatrics, 2015-01, Vol.2015, p.263253-3 [Periódico revisado por pares]United States: Hindawi Publishing CorporationTexto completo disponível |
4 |
Material Type: Artigo
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Performance of the T2Candida Panel for the Diagnosis of Intra-abdominal CandidiasisLamoth, Frederic ; Clancy, Cornelius J ; Tissot, Frederic ; Squires, Kevin ; Eggimann, Philippe ; Flückiger, Ursula ; Siegemund, Martin ; Orasch, Christina ; Zimmerli, Stefan ; Calandra, Thierry ; Marchetti, Oscar ; Nguyen, Minh H ; Bochud, Pierre-YvesOpen forum infectious diseases, 2020-03, Vol.7 (3), p.ofaa075-ofaa075 [Periódico revisado por pares]US: Oxford University PressTexto completo disponível |
5 |
Material Type: Artigo
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Triazolopeptides Inhibiting the Interaction between Neuropilin-1 and Vascular Endothelial Growth Factor-165Fedorczyk, Bartlomiej ; Lipiński, Piotr F J ; Puszko, Anna K ; Tymecka, Dagmara ; Wilenska, Beata ; Dudka, Wioleta ; Perret, Gerard Y ; Wieczorek, Rafal ; Misicka, AleksandraMolecules (Basel, Switzerland), 2019-05, Vol.24 (9), p.1756 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
6 |
Material Type: Artigo
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Molecular Pharmacology of VEGF-A Isoforms: Binding and Signalling at VEGFR2Peach, Chloe J ; Mignone, Viviane W ; Arruda, Maria Augusta ; Alcobia, Diana C ; Hill, Stephen J ; Kilpatrick, Laura E ; Woolard, JeanetteInternational journal of molecular sciences, 2018-04, Vol.19 (4), p.1264 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
7 |
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 |
8 |
Material Type: Artigo
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Derivation of a Model to Guide Empiric Therapy for Carbapenem-Resistant Klebsiella pneumoniae Bloodstream Infection in an Endemic AreaWeston, Gregory ; Jahufar, Fathima ; Sharma, Nikhil ; Su, Christopher ; Bellin, Eran ; Ostrowsky, BelindaOpen forum infectious diseases, 2020-07, Vol.7 (7), p.ofaa070-ofaa070 [Periódico revisado por pares]US: Oxford University PressTexto completo disponível |
9 |
Material Type: Artigo
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The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic propertiesMonkhorst, Kim ; de Hoon, Bas ; Jonkers, Iris ; Mulugeta Achame, Eskeatnaf ; Monkhorst, Wouter ; Hoogerbrugge, Jos ; Rentmeester, Eveline ; Westerhoff, Hans V ; Grosveld, Frank ; Grootegoed, J Anton ; Gribnau, Joost Freitag, MichaelPloS one, 2009-05, Vol.4 (5), p.e5616-e5616 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
10 |
Material Type: Artigo
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Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case reportYamazaki, Susumu ; Akutsu, Yuko ; Shimbo, Asami ; Shimizu, Masaki ; Segawa, Yuko ; Mori, MasaakiPediatric rheumatology online journal, 2021-02, Vol.19 (1), p.20-20, Article 20 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |