Biparental Inheritance of Mitochondrial DNA in Humans von Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

Volltext

The incorporation of next-generation sequencing into pediatric care von Lee, Ni-Chung

Volltext

Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 von Chen, Pin‐Shiuan, Lee, Ni‐Chung, Sung, Chieh‐Ju, Liu, Ya‐Wen, Weng, Wen‐Chin, Fan, Pi‐Chuan, Lee, Wang‐Tso, Chien, Yin‐Hsiu, Wu, Chao‐Szu, Sung, Yueh‐Feng, Tsai, Ming‐Chen, Lee, Yi‐Chung, Hsueh, Hsueh‐Wen, Fan, Sabrina Mai‐Yi, Wu, Meng‐Chen, Li, Hsun, Chen, Huan‐Yun, Lin, Han‐I, Ou‐Yang, Chih‐Hsin, Hwuh, Wuh‐Liang, Lin, Chin‐Hsien

Volltext

Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification von Fan, Sung‐Pin, Lee, Ni‐Chung, Lin, Chin‐Hsien

Volltext

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening von Chien, Yin-Hsiu, Chiang, Shu-Chuan, Weng, Wen-Chin, Lee, Ni-Chung, Lin, Ching-Jie, Hsieh, Wu-Shiun, Lee, Wang-Tso, Jong, Yuh-Jyh, Ko, Tsang-Ming, Hwu, Wuh-Liang

Volltext

Comparison of GATK and DeepVariant by trio sequencing von Lin, Yi-Lin, Chang, Pi-Chuan, Hsu, Ching, Hung, Miao-Zi, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lai, FeiPei, Lee, Ni-Chung

Volltext

Topographical metal burden correlates with brain atrophy and clinical severity in Wilson's disease von Fan, Sung-Pin, Chen, Ya-Fang, Li, Cheng-Hsuan, Kuo, Yih-Chih, Lee, Ni-Chung, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Tseng, Tai-Chung, Su, Tung-Hung, Hsu, Chien-Ting, Chen, Huey-Ling, Lin, Chin-Hsien, Ni, Yen-Hsuan

Volltext

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency von Hsu, Rai-Hseng, Lee, Ni-Chung, Chen, Hui-An, Hwu, Wuh-Liang, Chang, Tung-Ming, Chien, Yin-Hsiu

Volltext

Changing clinical manifestations of Gaucher disease in Taiwan von Lu, Wen-Li, Chien, Yin-Hsiu, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chou, Yen-Yin, Chu, Shao-Yin, Li, Meng-Ju, Lee, An-Ju, Liao, Chao-Chuan, Wang, Chung-Hsing, Lee, Ni-Chung

Volltext

The role of genetic testing in adult patients with unexplained epilepsy von Chung, Chi‐Ting, Lee, Ni‐Chung, Lin, I‐Ting, Chen, Pin‐Yu, Jao, Tun

Volltext

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns von Chien, Yin-Hsiu, Lee, Ni-Chung, Chen, Pin-Wen, Yeh, Hui-Ying, Gelb, Michael H, Chiu, Pao-Chin, Chu, Shao-Yin, Lee, Chen-Hao, Lee, An-Ru, Hwu, Wuh-Liang

Volltext

Towards a reference genome that captures global genetic diversity von Wong, Karen H. Y., Ma, Walfred, Wei, Chun-Yu, Yeh, Erh-Chan, Lin, Wan-Jia, Wang, Elin H. F., Su, Jen-Ping, Hsieh, Feng-Jen, Kao, Hsiao-Jung, Chen, Hsiao-Huei, Chow, Stephen K., Young, Eleanor, Chu, Catherine, Poon, Annie, Yang, Chi-Fan, Lin, Dar-Shong, Hu, Yu-Feng, Wu, Jer-Yuarn, Lee, Ni-Chung, Hwu, Wuh-Liang, Boffelli, Dario, Martin, David, Xiao, Ming, Kwok, Pui-Yan

Volltext

GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease von Wang, Chung-Hsing, Huang, Yu-Nan, Liao, Wen-Ling, Hsieh, Ai-Ru, Lin, Wei-De, Liu, Kai-Wen, Lu, Wen-Li, Huang, Chieh-Chen, Chien, Yin-Hsiu, Lee, Ni-Chung, Su, Pen-Hua, Tsai, Fuu-Jen

Volltext

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference von Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lee, Ni-Chung

Volltext

A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase‐7 von Lee, Chee‐Seng, Ni, Yen‐Hsuan, Chen, Huey‐Ling, Wu, Jia‐Feng, Hsu, Hong‐Yuan, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Hwu, Wuh‐Liang, Yen, Ting‐An, Chua, Huey‐Huey, Chen, Yu‐Ju, Wang, Yu‐Lin, Chang, Mei‐Hwei

Volltext

Gene therapy improves brain white matter in aromatic l‐amino acid decarboxylase deficiency von Tseng, Chih‐Hsien, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Hsu, Yung‐Chin, Peng, Shinn‐Forng, Tseng, Wen‐Yih I., Hwu, Wuh‐Liang

Volltext

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth von Chien, Yin-Hsiu, MD, PhD, Lee, Ni-Chung, MD, PhD, Chen, Chun-An, MD, Tsai, Fuu-Jen, MD, PhD, Tsai, Wen-Hui, MD, PhD, Shieh, Jeng-Yi, MD, PhD, Huang, Hsiang-Ju, MS, Hsu, Wei-Chung, MD, PhD, Tsai, Tzu-Hsun, MD, PhD, Hwu, Wuh-Liang, MD, PhD

Volltext

Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups von Chu, Tzu-Hung, Chien, Yin-Hsiu, Lin, Hsiang-Yu, Liao, Hsuan-Chieh, Ho, Huey-Jane, Lai, Chih-Jou, Chiang, Chuan-Chi, Lin, Niang-Cheng, Yang, Chia-Feng, Hwu, Wuh-Liang, Lee, Ni-Chung, Lin, Shuan-Pei, Liu, Chin-Su, Hu, Rey-Heng, Ho, Ming-Chih, Niu, Dau-Ming

Volltext

CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening von Weng, Wen-Chin, Hsu, Yu-Kan, Chang, Fu-Man, Lin, Chun-Yen, Hwu, Wuh-Liang, Lee, Wang-Tso, Lee, Ni-Chung, Chien, Yin-Hsiu

Volltext

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) von Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Dobrovolny, Robert, Huang, Ai-Chu, Yeh, Hui-Ying, Chao, May-Chin, Lin, Shio-Jean, Kitagawa, Teruo, Desnick, Robert J, Hsu, Li-Wen

Volltext