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CORC

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Hydrocephalus in cblC type methylmalonic acidemia 期刊论文
METABOLIC BRAIN DISEASE, 2019, 卷号: 34, 期号: 2, 页码: 451-458
作者:  Zhang, Kaihui;  Gao, Min;  Wang, Guangyu;  Shi, Yingying;  Li, Xiaoying
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/11
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing 期刊论文
FRONTIERS IN PHARMACOLOGY, 2019, 卷号: 10
作者:  Wang, Dong;  Gao, Min;  Zhang, Kaihui;  Jin, Ruifeng;  Lv, Yuqiang
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 39
作者:  Zhang, Haiyan;  Ma, Yanyan;  Song, Fengling;  Yang, Xiaomeng;  Li, Yue
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Yan, Beibei;  Wang, Chao;  Zhang, Kaihui;  Zhang, Haiyan;  Gao, Min
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/11
Establishment of a human induced pluripotent stem cell line (SDQLCHi005-A) from a patient with mastocytosis carrying heterozygous mutation in KIT gene 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 40
作者:  Zhang, Haiyan;  Ma, Yanyan;  Yan, Beibei;  Yang, Xiaomeng;  Li, Yue
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11
Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830 kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 40
作者:  Yang, Xiaomeng;  Zhou, Tiancheng;  Zhang, Haiyan;  Li, Yue;  Dong, Rui
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11
Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 40
作者:  Ma, Yanyan;  Zhang, Haiyan;  Yang, Xiaomeng;  Li, Yue;  Guan, Jingyun
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/11
Generation of two induced pluripotent stem cell lines from patients with unbalanced translocation (3;22) 期刊论文
STEM CELL RESEARCH, 2019, 卷号: 40
作者:  Ma, Yanyan;  Zhang, Haiyan;  Yang, Xiaomeng;  Li, Yue;  Guan, Jingyun
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Gut microbiota dysbiosis is associated with. Henoch-Schonlein Purpura in children 期刊论文
INTERNATIONAL IMMUNOPHARMACOLOGY, 2018, 卷号: 58, 页码: 1-8
作者:  Wang, Xingcui;  Zhang, Lei;  Wang, Ying;  Liu, Xuemei;  Zhang, Hongxia
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease 期刊论文
METABOLIC BRAIN DISEASE, 2018, 卷号: 33, 期号: 3, 页码: 741-751
作者:  Li, Xiaomei;  Yang, Yali;  Gao, Qing;  Gao, Min;  Lv, Yvqiang
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/11

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