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浏览/检索结果: 共5条，第1-5条 帮助 限定条件 专题：山东大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 6 作者:  Xu, Chao;  Jia, Wenyu;  Cheng, Xiangdeng;  Ying, Hui;  Chen, Jing 收藏  |  浏览/下载：29/0  |  提交时间：2019/12/11 congenital adrenal hyperplasia (CAH)  CYP21A2  genotype-phenotype  associations  mutation  steroid 21-hydroxylase deficiency (21OHD)   Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review 期刊论文 MEDICINE, 2018, 卷号: 97, 期号: 32 作者:  Ma, Dan;  Wang, Xuxia;  Guo, Jun;  Zhang, Jun;  Cai, Tao 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 cleidocranial dysplasia  phenotype-genotype correlation  RUNX2  supernumerary teeth   Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers 期刊论文 CURRENT MOLECULAR MEDICINE, 2018, 卷号: 18, 期号: 5, 页码: 306-311 作者:  Chen, X.;  Sheng, X.;  Liu, G.;  Liu, Y.;  Li, H. 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 Retinitis pigmentosa  X-linked  mutation  RPGR  PDE6A  genotype-phenotype correlation   PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures 期刊论文 INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2018, 卷号: 128, 期号: 8, 页码: 751-760 作者:  Zhao, Guohua;  Liu, Xiaomin;  Zhang, Qiong;  Wang, Kang 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 Paroxysmal kinesigenic dyskinesia  infantile convulsions and  choreoathetosis  PRRT2 gene  mutation  genotype-phenotype correlation   Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis 期刊论文 TRANSLATIONAL NEURODEGENERATION, 2017, 卷号: 6 作者:  Zhao, Guo-hua;  Liu, Xiao-min 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11 Hereditary spastic paraplegia  SPG3A  Age at onset  ATL1  Mutation  Genotype-phenotype correlation