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CORC

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Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome 期刊论文
2019
作者:  Pan Yun-Di;  Fu Jun-Ling;  Xiao Xin-Hua
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review 期刊论文
2019
作者:  Liang Hanting;  Miao Hui;  Yang Hongbo;  Gong Fengying;  Chen Shi
收藏  |  浏览/下载：26/0  |  提交时间：2020/01/03
Novel Compound Heterozygous Mutations in RAG1 in a Patient with Cutaneous Lymphoproliferative Disease 期刊论文
2019, 卷号: 99, 期号: 1, 页码: 105-106
作者:  Xu, Cong-cong;  Chen, Zhi-ming;  Xiong, Jing-shu;  Gan, Lu;  Zhang, Ying
收藏  |  浏览/下载：12/0  |  提交时间：2020/01/03
Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome 期刊论文
2018, 卷号: 6, 期号: 8, 页码: 1448-1451
作者:  Ling Chao;  Yang Wei;  Sun Hailang;  Ge Ming;  Ji Yuanqi
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X 期刊论文
2018, 卷号: 29, 期号: 6, 页码: 1389-1396
作者:  Song, Y.;  Zhao, D.;  Xu, X.;  Lv, F.;  Li, L.
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees 期刊论文
2018, 卷号: 6, 期号: 6, 页码: 1097-1103
作者:  Yang, Bin;  Wang, Xi;  Zhang, Wei;  Li, Hongjun;  Wang, Binbin
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease 期刊论文
2016, 卷号: 22, 页码: 1514-1521
作者:  Zhang, Jianping;  Qi, Anhui;  Wang, Xi;  Pan, Hong;  Mo, Haiming
收藏  |  浏览/下载：9/0  |  提交时间：2020/01/04
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism 期刊论文
2015, 卷号: 399, 期号: C, 页码: 32-42
作者:  Chen, Zhike;  Wang, Ou;  Nie, Min;  Elison, Kathleen;  Zhou, Dujin
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/13
Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene 期刊论文
2013, 卷号: 26, 期号: 3-4, 页码: 389-91
作者:  Yang Hongbo;  Zhang Huabing;  Lu Lin;  Wang Ou;  Xing Xiaoping
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13
Two compound heterozygous novel SLC39A4 mutations in generalized eczematoid acrodermatitis enteropathica 期刊论文
2012, 卷号: 22, 期号: 6, 页码: 794-795
作者:  Li, Cheng-Rang;  Feng, Su-Ying;  Wang, Qiang;  Xu, Xiu-Lian;  Pan, Yu-Wei
收藏  |  浏览/下载：1/0  |  提交时间：2020/01/13

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