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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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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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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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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 |
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Material Type: Artigo
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Assessment of PlanIQ Feasibility DVH for head and neck treatment planningFried, David V. ; Chera, Bhishamjit S. ; Das, Shiva K.Journal of applied clinical medical physics, 2017-09, Vol.18 (5), p.245-250 [Periódico revisado por pares]United States: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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Sex-chromosome dosage effects on gene expression in humansRaznahan, Armin ; Parikshak, Neelroop N. ; Chandran, Vijay ; Blumenthal, Jonathan D. ; Clasen, Liv S. ; Alexander-Bloch, Aaron F. ; Zinn, Andrew R. ; Wangsa, Danny ; Wise, Jasen ; Murphy, Declan G. M. ; Bolton, Patrick F. ; Ried, Thomas ; Ross, Judith ; Giedd, Jay N. ; Geschwind, Daniel H.Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.7398-7403 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersOetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D HNature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane DomainHo, Shiuh-Rong ; Lee, Yu-Ju ; Lin, Weei-ChinThe Journal of biological chemistry, 2015-09, Vol.290 (38), p.23026-23038 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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ATS/ERS Statement on respiratory muscle testingAmerican Thoracic Society/European Respiratory SocietyAmerican journal of respiratory and critical care medicine, 2002-08, Vol.166 (4), p.518-624 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Conservation and Diversification of Dileucine Signal Recognition by Adaptor Protein (AP) Complex VariantsMattera, Rafael ; Boehm, Markus ; Chaudhuri, Rittik ; Prabhu, Yogikala ; Bonifacino, Juan S.The Journal of biological chemistry, 2011-01, Vol.286 (3), p.2022-2030 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |