Zobrazeno 1 - 10
of 137
pro vyhledávání: '"diagnostic rate"'
Autor:
Hongyu Chen, Guangjie Chen, Fengxia Li, Yong Huang, Linfeng Zhu, Yijun Zhao, Ziyi Jiang, Xiang Yan, Lan Yu
Publikováno v:
Biology of Sex Differences, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Purpose 46,XY disorders of sex development (46,XY DSD) are characterized by incomplete masculinization of genitalia with reduced androgenization. Accurate clinical management remains challenging, especially based solely on physical examinati
Externí odkaz:
https://doaj.org/article/73c986443fd64155b71cee6df2586e80
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 368-374 (2024)
Primary ciliary dyskinesia (PCD) is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia. It is typically inherited in an autosomal recessive pattern. The disease affects multiple organs, and the
Externí odkaz:
https://doaj.org/article/1126336f14714409a5b60ade802fd4db
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)
Abstract Background Hereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Despite its prevalence, hearing loss is marked by substantial genetic diversity, which poses challenges for diag
Externí odkaz:
https://doaj.org/article/1adedb2d241c4ba9ada51a0ba58d2f50
Autor:
Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong Li
Publikováno v:
Heliyon, Vol 10, Iss 20, Pp e38802- (2024)
Hearing loss is a common disease. More than 100 genes have been reported to be associated with hereditary hearing loss. However, the distribution of these genes and their variants across diverse populations remains unclear. In this study, we gathered
Externí odkaz:
https://doaj.org/article/d281caa15c07464eaac9af7e9fd6affb
Autor:
Li, Jingyu a, b, 1, Zhou, Shiyu a, b, 1, Pei, Jiahong b, 1, Li, Wanzhen a, b, Cui, Rongjie a, b, Ren, Xiaofei a, b, Wei, Jingru a, b, Li, Qian b, Zhu, Baosheng a, b, c, Sa, Yaliang b, ⁎⁎, Li, Yunlong a, b, c, ⁎
Publikováno v:
In Heliyon 30 October 2024 10(20)
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 16, Pp 81-97 (2023)
An Jia,1,* Yi Lei,2,* Dan-Ping Liu,2 Lu Pan,2 Hui-Zhen Guan,2 Bicheng Yang1,2 1Medical School, Huanghe Science and Technology College, Zhengzhou, People’s Republic of China; 2Jiangxi Key Laboratory of Birth Defect Prevention and Control, Ji
Externí odkaz:
https://doaj.org/article/1a7f53911618457d81542b71694a0ffd
Akademický článek
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Akademický článek
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Novel application of robot-guided stereotactic technique on biopsy diagnosis of intracranial lesions
Autor:
Yan Feng, Wang Yaming, Shan Yongzhi, Wei Penghu, Wang Hong, Fan Xiaotong, Wang Changming, Chen Sichang, Zhao Guoguang
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionThis study was performed to examine whether there is a link between the application of three types of robot-guided stereotactic biopsy techniques and the diagnostic rate of intracranial lesion biopsy.MethodsThe study involved 407 patients
Externí odkaz:
https://doaj.org/article/400b90f41aad43c787a2c6ed30ed00f0
Autor:
Elliott, Alison M. 1, 2, 3, ∗, Adam, Shelin 1, 2, du Souich, Christèle 1, 2, Lehman, Anna 1, 2, Nelson, Tanya N. 4, van Karnebeek, Clara 5, 6, Alderman, Emily 1, Armstrong, Linlea 1, 2, Aubertin, Gudrun 1, Blood, Katherine 1, Boelman, Cyrus 2, 7, Boerkoel, Cornelius 1, 2, Bretherick, Karla 4, Brown, Lindsay 4, Chijiwa, Chieko 1, Clarke, Lorne 1, 2, Couse, Madeline 1, Creighton, Susan 1, Watts-Dickens, Abby 1, Gibson, William T. 1, 2, Gill, Harinder 1, Tarailo-Graovac, Maja 2, Hamilton, Sara 1, Heran, Harindar 1, Horvath, Gabriella 2, 8, Huang, Lijia 4, Hulait, Gurdip K. 1, Koehn, David 1, Lee, Hyun Kyung 1, Lewis, Suzanne 1, 2, Lopez, Elena 1, 2, Louie, Kristal 1, Niederhoffer, Karen 1, Matthews, Allison 4, Meagher, Kirsten 1, Peng, Junran J. 2, Patel, Millan S. 1, 2, Race, Simone 8, Richmond, Phillip 2, Rupps, Rosemarie 1, Salvarinova, Ramona 2, 8, Seath, Kimberly 1, Selby, Kathryn 2, 7, Steinraths, Michelle 1, Stockler, Sylvia 2, 8, Tang, Kaoru 1, Tyson, Christine 4, van Allen, Margot 1, 2, Wasserman, Wyeth 1, 2, 5, Mwenifumbo, Jill 2, Friedman, Jan M. 1, 2
Publikováno v:
In Human Genetics and Genomics Advances 14 July 2022 3(3)