AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy

Por Chen, Ya-Chi, Hsiel, Shu-Chen, Pai, Ju-Shan, Chu, Tzu-Hung, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population

Por Pai, Ju-Shan, Chen, Ya-Chi, Hsie, Shu-Chen, Yang, Chia-Feng, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inord...

Por Lin, Yu-Ting, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsu, Ting-Rong, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)

AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

Por Hsieh, Shu-Chen, Lu, Yung-Hsiu, Chen, Ya-Chi, Pai, Ju-Shan, Hsieh, Yu-Ping, Niu, Dau-Ming
Publicado no Ann Transl Med (2015)