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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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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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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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A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early interventionUrbanus, Evelien ; Rijn, Sophie ; Swaab, HannaClinical genetics, 2020-01, Vol.97 (1), p.156-167 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Validation of an Objective Assessment Tool for Tonsillectomy in Otolaryngology Resident TrainingJakubowski, Luke ; Leader, Brittany A. ; Ishman, Stacey L. ; Chun, Robert ; Tarima, Sergey S. ; Parikh, Sanjay ; Skinner, Margaret ; Thorne, Marc ; Weatherly, Robert ; Wiet, Gregory ; Brown, David J.The Laryngoscope, 2021-02, Vol.131 (2), p.E359-E366 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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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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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisWigby, Kristen ; D'Epagnier, Cheryl ; Howell, Susan ; Reicks, Amy ; Wilson, Rebecca ; Cordeiro, Lisa ; Tartaglia, NicoleAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Lattice degeneration of the retina. XXX Edward Jackson Memorial LectureStraatsma, B R ; Zeegen, P D ; Foos, R Y ; Feman, S S ; Shabo, A LAmerican journal of ophthalmology, 1974-05, Vol.77 (5), p.619-649 [Periódico revisado por pares]United StatesTexto completo disponível |
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Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort studySánchez, Xabier Calle ; Montalbano, Simone ; Vaez, Morteza ; Krebs, Morten Dybdahl ; Byberg-Grauholm, Jonas ; Mortensen, Preben B ; Børglum, Anders D ; Hougaard, David M ; Nordentoft, Merete ; Geschwind, Daniel H ; Buil, Alfonso ; Schork, Andrew J ; Thompson, Wesley K ; Raznahan, Armin ; Helenius, Dorte ; Werge, Thomas ; Ingason, AndrésThe Lancet. Psychiatry, 2023-02, Vol.10 (2), p.129-138 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Clinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University HospitalHaidar, Hassan ; Çelik, Esra Biberoğlu ; Eraslan, MuhsinJournal of pediatric ophthalmology and strabismus, 2023-12, Vol.61 (3), p.188-197 [Periódico revisado por pares]United States: Slack, IncTexto completo disponível |