Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

Por Liang, Wen-Chen, Zhu, Wenhua, Mitsuhashi, Satomi, Noguchi, Satoru, Sacher, Michael, Ogawa, Megumu, Shih, Hsiang-Hung, Jong, Yuh-Jyh, Nishino, Ichizo
Publicado no Skelet Muscle (2015)

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

Por Liang, Wen-Chen, Tian, Xia, Yuo, Chung-Yee, Chen, Wan-Zi, Kan, Tsu-Min, Su, Yi-Ning, Nishino, Ichizo, Wong, Lee-Jun C., Jong, Yuh-Jyh
Publicado no PLoS One (2017)

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

Por Liang, Wen-Chen, Tian, Xia, Yuo, Chung-Yee, Chen, Wan-Zi, Kan, Tsu-Min, Su, Yi-Ning, Nishino, Ichizo, Wong, Lee-Jun C., Jong, Yuh-Jyh
Publicado no PLoS One (2017)

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

Por Tian, Xia, Liang, Wen-Chen, Feng, Yanming, Wang, Jing, Zhang, Victor Wei, Chou, Chih-Hung, Huang, Hsien-Da, Lam, Ching Wan, Hsu, Ya-Yun, Lin, Thy-Sheng, Chen, Wan-Tzu, Wong, Lee-Jun, Jong, Yuh-Jyh
Publicado no Neurol Genet (2015)

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

Por Liang, Wen-Chen, Uruha, Akinori, Suzuki, Shigeaki, Murakami, Nobuyuki, Takeshita, Eri, Chen, Wan-Zi, Jong, Yuh-Jyh, Endo, Yukari, Komaki, Hirofumi, Fujii, Tatsuya, Kawano, Yutaka, Mori-Yoshimura, Madoka, Oya, Yasushi, Xi, Jianying, Zhu, Wenhua, Zhao, Chongbo, Watanabe, Yurika, Ikemoto, Keisuke, Nishikawa, Atsuko, Hamanaka, Kohei, Mitsuhashi, Satomi, Suzuki, Norihiro, Nishino, Ichizo
Publicado no Rheumatology (Oxford) (2017)