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TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect 期刊论文
2019, 卷号: 14, 期号: 1, 页码: 178
作者:  Fan, Xinmiao;  Wang, Yibei;  Fan, Yue;  Du, Huiqian;  Luo, Nana
收藏  |  浏览/下载:10/0  |  提交时间:2020/01/03
Correlation Between Mandible and External Ear in Patients with Treacher-Collins Syndrome 期刊论文
2019, 卷号: 30, 期号: 4, 页码: 975-979
作者:  Ma, Xiaoyang;  Xie, Fang;  Zhang, Chao;  Xu, Jiajie;  Lu, Jianjian
收藏  |  浏览/下载:6/0  |  提交时间:2020/01/03
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway 期刊论文
HUMAN GENOMICS, 2019, 卷号: 13, 期号: 1, 页码: -
作者:  Wu, J;  Yang, Y;  He, Y;  Li, Q;  Wang, X
收藏  |  浏览/下载:22/0  |  提交时间:2020/10/16
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations 期刊论文
MOLECULAR GENETICS AND GENOMICS, 2018, 卷号: 293, 期号: 2
作者:  Chen, Ying;  Guo, Luo;  Li, Chen-long;  Shan, Jing;  Xu, Hai-song
收藏  |  浏览/下载:4/0  |  提交时间:2019/12/05
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome 期刊论文
JOURNAL OF CRANIOFACIAL SURGERY, 2016, 卷号: 27, 期号: 6
作者:  Hao, Shaojuan;  Jin, Lei;  Wang, Huijun;  Li, Chenlong;  Zheng, Fengyun
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/06
Reduced Three-Dimensional Airway Volume Is a Function of Skeletal Dysmorphology in Treacher Collins Syndrome 期刊论文
2015, 卷号: 135, 期号: 2, 页码: 382E-392E
作者:  Ma, Xiaoyang;  Forte, Antonio J.;  Persing, John A.;  Alonso, Nivaldo;  Berlin, Nicholas L.
收藏  |  浏览/下载:2/0  |  提交时间:2020/01/13
Reduced Three-Dimensional Nasal Airway Volume in Treacher Collins Syndrome and Its Association with Craniofacial Morphology 期刊论文
2015, 卷号: 135, 期号: 5, 页码: 885E-894E
作者:  Ma, Xiaoyang;  Forte, Antonio Jorge;  Berlin, Nicholas Lee;  Alonso, Nivaldo;  Persing, John A.
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/13
Combined Skeletal and Soft Tissue Reconstruction for Severe Parry-Romberg Syndrome 会议论文
2014中国医师协会美容与整形医师分会颅颌面整形亚专业委员会第四届全国学术会议论文集2014中国医师协会美容与整形医师分会;沈阳市医学会, 沈阳, 2014-06-06
作者:  Zhang ZY(张智勇);  Hu JT(胡金天);  Yin L(尹琳);  Tang XJ(唐晓军);  Gui L(归来)
收藏  |  浏览/下载:3/0  |  提交时间:2020/01/13
The staged reconstruction for adult complete Treacher-Collins syndrome 会议论文
2014中国医师协会美容与整形医师分会颅颌面整形亚专业委员会第四届全国学术会议论文集2014中国医师协会美容与整形医师分会;沈阳市医学会, 沈阳, 2014-06-06
作者:  Zhang ZY(张智勇);  Yin L(尹琳);  Tang XJ(唐晓军);  Yu B(俞冰);  Niu F(牛峰)
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/13
A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome 期刊论文
2013, 卷号: 77, 期号: 9, 页码: 1410-5
作者:  Zhang Xu;  Fan Yue;  Zhang Ying;  Xue Huadan;  Chen Xiaowei
收藏  |  浏览/下载:3/0  |  提交时间:2020/01/13


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