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1. 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

2. A homozygous FANCM frameshift pathogenic variant causes male infertility (vol 21, pg 266, 2018) 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

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

3. GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity PubMed SCIE SCOPUS

作者:Chen, X; Sheng, XL; Zhuang, WJ; Sun, XT; Liu, GH; Shi, X; Huang, GF; Mei, Y; Li, YJ; Pan, XY; Liu, YN; Li, ZL; Zhao, QS; Yan, B; Zhao, C

作者机构:[Chen, Xue; Zhao, Chen] Fudan Univ, Eye & ENT Hosp, Shanghai Med Coll, Dept Ophthalmol & Vis Sci, Shanghai, Peoples R China.; [Chen, Xue; Pan, Xinyu 更多

关键词:GUCA1A; Maculopathy; Medical genetics; Ophthalmology; Pathogenic mechanism

来源:GENETICS IN MEDICINE,2017,Vol.19,Issue.8

Scopus被引频次:6

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

5. Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach PubMed SCIE SCOPUS

作者:Dong, ZR; Zhang, J; Hu, P; Chen, HX; Xu, JJ; Tian, Q; Meng, L; Ye, YC; Wang, J; Zhang, MY; Li, Y; Wang, HL; Yu, SS; Chen, F; Xie, JS; Jiang, H; Wang, W; Choy, KW; Xu, ZF

作者机构:[Dong, Zirui; Chen, Haixiao; Xu, Jinjin; Yu, Shanshan; Chen, Fang; Jiang, Hui; Wang, Wei] BGI Shenzhen, Shenzhen, Peoples R China.; [Dong, Zirui; Wa 更多

关键词:molecular karyotyping; next-generation sequencing; pathogenic copy-number variants

来源:GENETICS IN MEDICINE,2016,Vol.18,Issue.9

WOS被引频次:5

Scopus被引频次:26

ESI学科:CLINICAL MEDICINE

JCR分区:Q1

当年影响因子:8.229

最新一期影响因子:8.229

资源类型:外文期刊论文

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