Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome

par Chih-Ping Chen, Schu-Rern Chern, Chien-Hsing Lin, Chin-Yuan Hsu, Hsiang-Yu Lin, Fang-Tzu Wu, Shin-Wen Chen, Wayseen Wang
Publié 2021

Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

par Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Publié 2021

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

par Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Chia-Feng Yang, Meng-Che Tsai, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Publié 2021

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

par Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Publié 2021