QQ客服 官方微博 反馈留言

浏览/检索结果: 共4条，第1-4条 帮助 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 Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients 期刊论文 Molecular Genetics & Genomic Medicine, 2019, 卷号: Vol.7 No.2 作者:  Yu Xia;  Shufang Huang;  Yueheng Wu;  Yongchao Yang;  Shaoxian Chen 收藏  |  浏览/下载：24/0  |  提交时间：2019/12/13 chromosomal microarray analysis  congenital heart disease  copy number variation  facial dysmorphism  Williams‐Beuren syndrome   High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype 期刊论文 Molecular Medicine Reports, 2017, 卷号: 15, 期号: 5, 页码: 2709-2712 作者:  Hu, Shijun;  Yang, Yifeng;  Liu, Lin;  Tan, Zhiping;  Zhao, Tianli* 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03 high-resolution single nucleotide polymorphism arrays  Williams-Beuren syndrome  autism  cleft palate   Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice 期刊论文 2009 Li, Hong Hua; Roy, Madhuri; Kuscuoglu, Unsal; Spencer, Corinne M.; Halm, Birgit; Harrison, Katharine C.; Bayle, Joseph H.; Splendore, Alessandra; Ding, Feng; Meltzer, Leslie A.; Wright, Elena; Paylor, 收藏  |  浏览/下载：1/0  |  提交时间：2013/12/12 genomic disorder  haploinsufficiency phenotypes  mouse chromosome deletion models  Williams syndrome   Uroplakin IIIb, a urothelial differentiation marker, dimerizes with uroplakin Ib as an early step of urothelial plaque assembly 期刊论文 journal of cell biology, 2002 Deng, FM; Liang, FX; Tu, LY; Resing, KA; Hu, P; Supino, M; Hu, CCA; Zhou, G; Ding, MX; Kreibich, G; Sun, TT 收藏  |  浏览/下载：2/0  |  提交时间：2015/11/16 bladder  urothelium  tetraspanin  membrane  DNA mismatch repair enzyme  WILLIAMS-BEUREN-SYNDROME  ASYMMETRIC UNIT MEMBRANE  DNA MISMATCH REPAIR  BLADDER DIVERTICULA  7Q11.23 DELETIONS  URINARY-BLADDER  PROTEINS  GENE  REGION  CELLS