Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Bardet-Biedl Syndrome and NPHP1[original query] |
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy. Journal of medical genetics 2020 12 59 (2): 147-154. Tang Xiaoshan, Liu Cuihua, Liu Xiaorong, Chen Jing, Fan Xiaoyan, Liu Jialu, Ma Duan, Cao Guanghai, Chen Zhi, Xu Daliang, Zhu Ying, Jiang Xiaoyun, Cheng Lizhi, Wu Yubing, Hou Ling, Li Yuhong, Shao Xiaoshan, Zheng Shasha, Zhang Aihua, Zheng Bixia, Jian Shan, Rong Zanhua, Su Qingxiao, Gao Xia, Rao Jia, Shen Qian, Xu Hong, , |
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