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浏览/检索结果: 共3条，第1-3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 Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system 期刊论文 Clinical Genetics, 2019 作者:  Rao J.;  Liu X.;  Mao J.;  Tang X.;  Shen Q. 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11 chronic kidney disease (CKD)  congenital anomalies of the kidney and urinary tract (CAKUT)  genetics  nephronophthisis (NPHP)  polycystic kidney disease PKD  renal disease  singleton-WES  steroid-resistant nephrotic syndrome (SRNS)  targeted gene sequence (TGS)  trio approach for WES (trio-WES)  whole-exome sequence (WES)   A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748 作者:  Yang, Junli;  Wang, Qiong;  Zhuo, Qingcui;  Tian, Huiling;  Li, Wen 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 glycosylphosphatidylinositol  GPI  IGD  inherited GPI deficiency  MCAHS2  multiple congenital anomalies hypotonia-seizures syndrome 2  phosphatidylinositol glycan anchor biosynthesis class A  PIGA  PIGA  deficiency  splicing defect  WES  whole-exome sequencing   An unexpected invasive hydatidiform mole in a rudimentary uterine horn: A case report 期刊论文 ONCOLOGY LETTERS, 2017, 卷号: 14, 期号: 3, 页码: 2808-2812 作者:  Si, Manfei;  Li, Peng;  Yuan, Zeng;  Ma, Hui;  Cui, Baoxia 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11 rudimentary horn of uterus  invasive hydatidiform mole  congenital  uterine anomalies  ectopic gestation