Li-Zhen Chen

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

D. Niu, Chia-Feng Yang, Wei-yu Chen, 2021, Molecular genetics and metabolism reports.

Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy

Tsai-Chu Yeh, Yun-Ru Chen, D. Niu, 2022, Molecular genetics and metabolism reports.

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

D. Niu, S. Kao, Hui-Chen Ho, 2022, Journal of Medical Genetics.