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浏览/检索结果: 共5条，第1-5条 帮助 限定条件 发表日期：2019    内容类型：期刊论文     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 TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文 GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7 作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng 收藏  |  浏览/下载：65/0  |  提交时间：2019/12/05 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   TBX6-associated congenital scoliosis as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. 期刊论文 Genetics in medicine : official journal of the American College of Medical Genetics, 2019 作者:  Jiaqi Liu;  Nan Wu;  Nan Yang;  Kazuki Takeda;  Weisheng Chen 收藏  |  浏览/下载：49/0  |  提交时间：2019/12/13 16p11.2/TBX6  compound  inheritance  model  congenital  scoliosis  (CS)  gene  dosage  genotype-phenotype  correlation   TBX6-associated congenital scoliosis as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文 Genetics in Medicine, 2019 作者:  Jiaqi Liu;  Nan Wu;  Deciphering Disorders Involving Scoliosis and COmorbidities study, Nan Yang;  Kazuki Takeda;  Weisheng Chen 收藏  |  浏览/下载：41/0  |  提交时间：2019/12/13 Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease 期刊论文 2019 作者:  Li Jiacheng;  Lu Chaoxia;  Wu Wei;  Liu Yaping;  Wang Rongrong 收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03 FBN1 mutation  Marfan syndrome  genotype-phenotype correlations  next-generation sequencing   TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文 2019, 卷号: 21, 期号: 7, 页码: 1548-1558 作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng 收藏  |  浏览/下载：36/0  |  提交时间：2020/01/03 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage