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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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Poor socio-economic status in 47,XXX – An unexpected effect of an extra X chromosomeStochholm, Kirstine ; Juul, Svend ; Gravholt, Claus HEuropean journal of medical genetics, 2013-06, Vol.56 (6), p.286-291 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
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3 |
Material Type: Artigo
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Mortality and incidence in women with 47,XXX and variantsStochholm, Kirstine ; Juul, Svend ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.367-372 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeSybert, V PJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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47,XXX male: A clinical and molecular studyOgata, Tsutomu ; Matsuo, Mari ; Muroya, Koji ; Koyama, Yasuhiro ; Fukutani, KeikoAmerican journal of medical genetics, 2001-02, Vol.98 (4), p.353-356 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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CUTIS VERTICIS GYRATA IN A WOMAN WITH SUPERNUMERARY X CHROMOSOMES (46,XX/47,XXX/48,XXXX)Olanders, Staffan ; Wålinder, JanActa psychiatrica Scandinavica, 1970-01, Vol.46 (2), p.120-125, Article 120 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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The Ethnic/Racial Variations of Intracerebral Hemorrhage (ERICH) study protocolWoo, Daniel ; Rosand, Jonathan ; Kidwell, Chelsea ; McCauley, Jacob L ; Osborne, Jennifer ; Brown, Mark W ; West, Sandra E ; Rademacher, Eric W ; Waddy, Salina ; Roberts, Jamie N ; Koch, Sebastian ; Gonzales, Nicole R ; Sung, Gene ; Kittner, Steven J ; Birnbaum, Lee ; Frankel, Michael ; Testai, Fernando Daniel ; Hall, Christiana E ; Elkind, Mitchell S V ; Flaherty, Matthew ; Coull, Bruce ; Chong, Ji Y ; Warwick, Tanya ; Malkoff, Marc ; James, Michael L ; Ali, Latisha K ; Worrall, Bradford B ; Jones, Floyd ; Watson, Tiffany ; Leonard, Anne ; Martinez, Rebecca ; Sacco, Ralph I ; Langefeld, Carl DStroke (1970), 2013-10, Vol.44 (10), p.e120-e125 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Liver biochemical abnormalities in Turner syndrome: A comprehensive characterization of an adult populationCalanchini, Matilde ; Moolla, Ahmad ; Tomlinson, Jeremy W. ; Cobbold, Jeremy F. ; Grossman, Ashley ; Fabbri, Andrea ; Turner, Helen E.Clinical endocrinology (Oxford), 2018-11, Vol.89 (5), p.667-676 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in ChinaLuo, Yanmei ; Hu, Huamei ; Zhang, Rong ; Ma, Yongyi ; Pan, Yan ; Long, Yang ; Hu, Bin ; Yao, Hong ; Liang, ZhiqingThe journal of gene medicine, 2021-09, Vol.23 (9), p.e3362-n/a [Periódico revisado por pares]England: Wiley Periodicals IncTexto completo disponível |
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10 |
Material Type: Artigo
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Decompressive craniectomyBakker, Nicolaas A ; Oterdoom, D L Marinus ; Regtien, Joost G ; Westerlaan, Henriëtte E ; van der Naalt, Joukje ; Mooij, Jan Jacob A ; van Dijk, J M CNederlands tijdschrift voor geneeskunde, 2009-02, Vol.153 (9), p.386-392NetherlandsTexto completo disponível |