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A review of trisomy X (47,XXX)Tartaglia, Nicole R ; Howell, Susan ; Sutherland, Ashley ; Wilson, Rebecca ; Wilson, LennieOrphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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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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Detection of VEGF-A(xxx)b isoforms in human tissuesBates, David O ; Mavrou, Athina ; Qiu, Yan ; Carter, James G ; Hamdollah-Zadeh, Maryam ; Barratt, Shaney ; Gammons, Melissa V ; Millar, Ann B ; Salmon, Andrew H J ; Oltean, Sebastian ; Harper, Steven JPloS one, 2013, Vol.8 (7), p.e68399 [Periódico revisado por pares]United States: Public Library of Science (PLoS)Texto completo disponível |
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Material Type: Artigo
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21Li, Jin ; Xie, Mingshui ; Wang, Fang ; Ma, Jianhong ; Li, Jiafu ; Chen, Chen ; Li, Zhimin ; Wang, Juan ; Zhang, Yuanzhen ; Li, YirongMolecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking studyBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; van Rijn, SophieJournal of neurodevelopmental disorders, 2022-08, Vol.14 (1), p.44-44, Article 44 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic WomanTakahashi, TohruInternal Medicine, 2014, Vol.53(7), pp.783-787 [Periódico revisado por pares]Japan: The Japanese Society of Internal MedicineTexto 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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Material Type: Artigo
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RNA-Sequencing data supports the existence of novel VEGFA splicing events but not of VEGFA xxx b isoformsBridgett, Stephen ; Dellett, Margaret ; Simpson, David AScientific reports, 2017-03, Vol.7 (1), p.58 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Acromegaly Accompanied by Turner Syndrome with 47,XXX/45,X/46,XX MosaicismYamazaki, Masanori ; Sato, Ai ; Nishio, Shin-ichi ; Takeda, Teiji ; Miyamoto, Takahide ; Katai, Miyuki ; Hashizume, KiyoshiInternal Medicine, 2009, Vol.48(6), pp.447-453 [Periódico revisado por pares]Japan: The Japanese Society of Internal MedicineTexto completo disponível |
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Material Type: Artigo
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Preparation and fabrication of a full‐scale, sagittal‐sliced, 3D‐printed, patient‐specific radiotherapy phantomCraft, Daniel F. ; Howell, Rebecca M.Journal of applied clinical medical physics, 2017-09, Vol.18 (5), p.285-292 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |