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浏览/检索结果: 共16条，第1-10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 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：63/0  |  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：47/0  |  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：39/0  |  提交时间：2019/12/13 Analysis of Outcomes in Ischemic vs Nonischemic Cardiomyopathy in Patients With Atrial Fibrillation A Report From the GARFIELD-AF Registry 期刊论文 2019, 卷号: 4, 期号: 6, 页码: 526-548 作者:  Corbalan, Ramon;  Bassand, Jean-Pierre;  Illingworth, Laura;  Ambrosio, Giuseppe;  Camm, A. John 收藏  |  浏览/下载：72/0  |  提交时间：2020/01/03 Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation 期刊论文 2019, 卷号: 104, 期号: 5, 页码: 925-935 作者:  Guo, Long;  Bertola, Debora Romeo;  Takanohashi, Asako;  Saito, Asuka;  Segawa, Yuko 收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03 CSF1R  HDLS  Pyle disease  dysosteosclerosis  leukoencephalopathy  mutation  osteoclast  osteosclerosis  skeletal dysplasia   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：33/0  |  提交时间：2020/01/03 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification 期刊论文 2018, 卷号: 63, 期号: 9, 页码: 1003-1007 作者:  Urel-Demir, Gizem;  Simsek-Kiper, Pelin Ozlem;  Akgun-Dogan, Ozlem;  Gocmen, Rahsan;  Wang, Zheng 收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03 A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis 期刊论文 2018, 卷号: 8, 期号: 1, 页码: 11575 作者:  Kou, Ikuyo;  Watanabe, Kota;  Takahashi, Yohei;  Momozawa, Yukihide;  Khanshour, Anas 收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03 Dysosteosclerosis is also caused by TNFRSF11A mutation 期刊论文 2018, 卷号: 63, 期号: 6, 页码: 769-774 作者:  Guo, Long;  Elcioglu, Nursel H.;  Karalar, Ozge K.;  Topkar, Mert O.;  Wang, Zheng 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03 An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis 期刊论文 2018, 卷号: 8, 期号: 1, 页码: 4730 作者:  Ogura, Yoji;  Takeda, Kazuki;  Kou, Ikuyo;  Khanshour, Anas;  Grauers, Anna 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03