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Page 1
Did you mean jin h han (175 results)?
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. Wu N, et al. Among authors: jin l. N Engl J Med. 2015 Jan 22;372(4):341-50. doi: 10.1056/NEJMoa1406829. Epub 2015 Jan 7. N Engl J Med. 2015. PMID: 25564734 Free PMC article.
Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic …
Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic conge …
Metal-free directed sp2-C-H borylation.
Lv J, Chen X, Xue XS, Zhao B, Liang Y, Wang M, Jin L, Yuan Y, Han Y, Zhao Y, Lu Y, Zhao J, Sun WY, Houk KN, Shi Z. Lv J, et al. Among authors: jin l. Nature. 2019 Nov;575(7782):336-340. doi: 10.1038/s41586-019-1640-2. Epub 2019 Sep 30. Nature. 2019. PMID: 31723273
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
Tian S, Tu C, He X, Meng L, Wang J, Tang S, Gao Y, Liu C, Wu H, Zhou Y, Lv M, Lin G, Jin L, Cao Y, Tang D, Zhang F, Tan YQ. Tian S, et al. Among authors: jin l. J Med Genet. 2023 Aug;60(8):827-834. doi: 10.1136/jmg-2022-108887. Epub 2023 Jan 2. J Med Genet. 2023. PMID: 36593121
METHODS AND RESULTS: Here, we performed genetic analyses through whole-exome sequencing in a cohort of 334 Han Chinese probands with severe MMAF or NOA. Biallelic variants of CFAP54 were identified in three unrelated men, including one homozygous frameshift variant (c.3317 …
METHODS AND RESULTS: Here, we performed genetic analyses through whole-exome sequencing in a cohort of 334 Han Chinese probands with …
660 results