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1. Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) PubMed SCOPUS SCIE

作者:Sha, YW; Wang, X; Xu, XH; Su, ZY; Cui, YQ; Mei, LB; Huang, XJ; Chen, J; He, XM; Ji, ZY; Bao, HC; Yang, XY; Li, P; Li, L

作者机构:[Sha, Yan-Wei; Su, Zhi-Ying; Mei, Li-Bin; Huang, Xian-Jing; He, Xue-Mei; Ji, Zhi-Yong; Li, Ping] Xiamen Matern & Child Care Hosp, Dept Reprod Med, Xia 更多

关键词:CFAP43; CFAP44; consanguineous family; dysplasia of the fibrous sheath; MMAF; multiple morphological abnormalities of the sperm flagella; whole exome sequencing

来源:REPRODUCTIVE SCIENCES,2019,Vol.26,Issue.1

WOS被引频次:4

Scopus被引频次:1

ESI学科:CLINICAL MEDICINE

最新一期影响因子:2.443

资源类型:外文期刊论文

14. A homozygous FANCM frameshift pathogenic variant causes male infertility PubMed SCOPUS SCIE

作者:Yin, H; Ma, H; Hussain, S; Zhang, H; Xie, XF; Jiang, L; Jiang, XH; Iqbal, F; Bukhari, I; Jiang, HW; Ali, A; Zhong, LW; Li, T; Fan, SX; Zhang, BB; Gao, JN; Li, Y; Nazish, J; Khan, T; Khan, M; Zubair, M; Hao, QM; Fang, H; Huang, J; Huleihel, M; Sha, JH; Pandita, TK; Zhang, YW; Shi, QH

作者机构:[Yin, Hao; Ma, Hui; Hussain, Sajjad; Zhang, Huan; Xie, Xuefeng; Jiang, Long; Jiang, Xiaohua; Iqbal, Furhan; Bukhari, Ihtisham; Jiang, Hanwei; Ali, Asi 更多

关键词:FANCM PV; Interstrand crosslink sensitivity Fanconi anemia; Male infertility; Spermatogenic failure

来源:GENETICS IN MEDICINE,2019,Vol.21,Issue.1

WOS被引频次:1

ESI学科:CLINICAL MEDICINE

最新一期影响因子:8.229

资源类型:外文期刊论文

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