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Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next-generation sequencing 期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 5, 页码: 4147-4158
作者:  Li, Ying;  Lv, Xiao;  Ge, Xueling;  Yuan, Dai;  Ding, Mei
收藏  |  浏览/下载：38/0  |  提交时间：2019/12/11
Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease 期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 6, 页码: 4872-4880
作者:  Liu, Yi-Dan;  Chu, Xu;  Liu, Rui-Hua;  Sun, Ying;  Kong, Qing-Xia
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11
A Novel Mutation in the Glucocorticoid Receptor Gene Causing Resistant Hypertension: A Case Report 期刊论文
AMERICAN JOURNAL OF HYPERTENSION, 2019, 卷号: 32, 期号: 11, 页码: 1126-1128
作者:  Lin, Lin;  Wu, Xia;  Hou, Yamin;  Zheng, Fei;  Xu, Rui
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord">A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 10, 页码: 979-983
作者:  Song, Chengyuan;  Peng, Linliu;  Wang, Shengjun;  Liu, Yiming
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/11
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing A case report and brief literature review 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 4
作者:  Yao, Guixiang;  Wang, Guangxin;  Wang, Dawei;  Su, Guohai
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
ATP-binding cassette sub-family a member1 gene mutation improves lipid metabolic abnormalities in diabetes mellitus 期刊论文
LIPIDS IN HEALTH AND DISEASE, 2019, 卷号: 18, 期号: 1
作者:  Yan, Huili;  Cheng, Lei;  Jia, Ruoshuang;  Yao, Huiqian;  Wu, Hongxia
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/11
Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3 ' Untranslated Region Mutation of COL4A1 Gene 期刊论文
STROKE, 2019, 卷号: 50, 期号: 9, 页码: 2307-2313
作者:  Zhao, Yu-Ying;  Duan, Ruo-Nan;  Ji, Lin;  Liu, Qi-Ji;  Yan, Chuan-Zhu
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/11
Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene 期刊论文
Stem Cell Research, 2019, 卷号: 41
作者:  Zhang H.;  Ma Y.;  Yu S.;  Yang X.;  Li Y.
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11
Research progress of single nucleotide polymorphism and development of high myopia [单核苷酸多态性与高度近视发生发展的研究进展] 期刊论文
International Eye Science, 2019, 卷号: 19, 期号: 9, 页码: 1495-1498
作者:  Wu S.-S.;  Guo D.-D.;  Liu D.-Z.;  Yin L.-L.;  Jiang W.-J.
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
Mutation analysis of the KRT17 gene in steatocystoma multiplex and a brief literature review 期刊论文
Clinical and Experimental Dermatology, 2019
作者:  Zhang B.;  Sun L.;  Fu X.;  Yu G.;  Liu H.
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11

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