Association between genetic variation of CACNA1H and childhood absence epilepsy
Chen, Yucai, Lu, Jianjun, Pan, Hong, Zhang, Yuehua, Wu, Husheng, Xu, Keming, Liu, Xiaoyan, Jiang, Yuwu, Bao, Xinhua, Yao, Zhijian, Ding, Keyue, Lo, Wilson H. Y., Qiang, Boqin, Chan, Piu, Shen, Yan, Wu, Xiru
Published in Annals of neurology (01.08.2003)
Published in Annals of neurology (01.08.2003)
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Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome
Zhao, Xiuli, Sun, Miao, Zhao, Jin, Leyva, J. Alfonso, Zhu, Hongwen, Yang, Wei, Zeng, Xuan, Ao, Yang, Liu, Qing, Liu, Guoyang, Lo, Wilson H.Y., Jabs, Ethylin Wang, Amzel, L. Mario, Shan, Xiangnian, Zhang, Xue
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia
Sun, Miao, Li, Ning, Dong, Wu, Chen, Zugen, Liu, Qing, Xu, Yiming, He, Guang, Shi, Yongyong, Li, Xin, Hao, Jiajie, Luo, Yang, Shang, Dandan, Lv, Dan, Ma, Fen, Zhang, Dai, Hua, Rui, Lu, Chaoxia, Wen, Yaran, Cao, Lihua, Irvine, Alan D., McLean, W.H. Irwin, Dong, Qi, Wang, Ming-Rong, Yu, Jun, He, Lin, Lo, Wilson H.Y., Zhang, Xue
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism
Yang, Wei, Cao, Lihua, Liu, Wenli, Jiang, Li, Sun, Miao, Zhang, Dai, Wang, Shusen, Lo, Wilson H Y, Luo, Yang, Zhang, Xue
Published in Journal of human genetics (01.04.2008)
Published in Journal of human genetics (01.04.2008)
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A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression
Jiang, Miao, Zhao, Xiuli, Han, Weitian, Bian, Chaoying, Li, Xuefu, Wang, Ge, Ao, Yang, Li, Yunqing, Yi, Dongxu, Zhe, Yang, Lo, Wilson H Y, Zhang, Xue, Li, Jianxin
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family
Lv, Dan, Luo, Yang, Yang, Wei, Cao, Lihua, Wen, Yaran, Zhao, Xiuli, Sun, Miao, Lo, Wilson H-Y, Zhang, Xue
Published in Journal of human genetics (01.07.2009)
Published in Journal of human genetics (01.07.2009)
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Novel Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) in Chinese Families with Dyschromatosis Symmetrica Hereditaria
Liu, Qing, Liu, Wenli, Jiang, Li, Sun, Miao, Ao, Yang, Zhao, Xiuli, Song, Yong, Luo, Yang, Lo, Wilson H.Y., Zhang, Xue
Published in Journal of investigative dermatology (01.04.2004)
Published in Journal of investigative dermatology (01.04.2004)
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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
McLean, W H Irwin, He, Chun-Di, Zhang, Xue, Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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Loss-of-function mutations of an inhibitory upstream orf in the human hairless transcript cause marie unna hereditary hypotrichosis
Published in Nature genetics
(01.06.2009)
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DSPP mutation in dentinogenesis imperfecta Shields type II
Shen, Yan, Zhang, Xiaohai, Zhao, Jun, Li, Changfu, Gao, Shan, Qiu, Changchun, Liu, Ping, Wu, Guanyun, Qiang, Boqin, Lo, Wilson H.Y
Published in Nature genetics (01.02.2001)
Published in Nature genetics (01.02.2001)
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Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y, McLean, W H Irwin, He, Chun-Di, Zhang, Xue
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Erratum: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y, McLean, W H Irwin, He, Chun-Di, Zhang, Xue
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Correction: Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y, McLean, W H Irwin, He, Chun-Di, Zhang, Xue
Published in Nature genetics (2009)
Published in Nature genetics (2009)
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Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred
Zhao, Hongshan, Tian, Yong, Breedveld, Guido, Huang, Shangzhi, Zou, Ying, Y, Jue, Chai, Jinghua, Li, Hui, Li, Mingyue, Oostra, Ben A, Lo, Wilson H Y, Heutink, Peter
Published in European journal of human genetics : EJHG (01.03.2002)
Published in European journal of human genetics : EJHG (01.03.2002)
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Journal Article
Chinese Geneticists Are Far from Eugenics Movement
Chen, Zhu, Chen, Ren-biao, Qiu, Ren-zong, Du, Ruo-fu, Lo, Wilson H.Y.
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3
HUANG, S, ZHUYU, LI, H, LABU, BAIZHU, LO, W. H. Y, FISCHER, C, VOGEL, F
Published in Human genetics (01.10.1997)
Published in Human genetics (01.10.1997)
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