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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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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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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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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospitalDeng, Cechuan ; Zhu, Qian ; Liu, Sha ; Liu, Jianlong ; Bai, Ting ; Jing, Xiaosha ; Xia, Tianyu ; Liu, Yunyun ; Cheng, Jing ; Li, Zhunduo ; Wei, Xiang ; Xing, Lingling ; Luo, Yuan ; Liu, HongqianScientific reports, 2019-05, Vol.9 (1), p.7767, Article 7767 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern ChinaYang, Jiexia ; Hou, Yaping ; Guo, Fangfang ; Peng, Haishan ; Wang, Dongmei ; Li, Yi ; OY, Haoxin ; Wang, Yixia ; Lu, Jian ; Yin, AihuaJournal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.727-734 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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VEGF₁₂₁b and VEGF₁₆₅b are weakly angiogenic isoforms of VEGF-ACatena, Raúl ; Larzabal, Leyre ; Larrayoz, Marta ; Molina, Eva ; Hermida, Jose ; Agorreta, Jackeline ; Montes, Ramon ; Pio, Ruben ; Montuenga, Luis M ; Calvo, AlfonsoMolecular cancer, 2010-12, Vol.9 (319), p.320-320, Article 320 [Periódico revisado por pares]England: BioMed Central LtdTexto 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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Prevalence of adolescent idiopathic scoliosis in Shijiazhuang, Hebei, China: a cross-sectional studyLiu, Lu ; Wang, Xuan ; Du, Shuangqing ; Zhang, Wei ; Xue, Yuqiang ; Li, Xi ; Gao, Tianci ; Gao, Yang ; Wang, Shaobiao ; Chen, YaxuanEuropean spine journal, 2024-02, Vol.33 (2), p.673-679 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experienceMargiotti, Katia ; Cesta, Anthony ; Dello Russo, Claudio ; Cima, Antonella ; Barone, Maria Antonietta ; Viola, Antonella ; Sparacino, Davide ; Mesoraca, Alvaro ; Giorlandino, ClaudioBMC research notes, 2020-03, Vol.13 (1), p.167-167, Article 167 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 geneSeemab, Suman ; Pervaiz, Nashaiman ; Zehra, Rabail ; Anwar, Saneela ; Bao, Yiming ; Abbasi, Amir AliBMC ecology and evolution, 2019-03, Vol.19 (1), p.72-72, Article 72 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |