A Compound Heterozygous GNPTAB Mutation Causes Mucolipidosis II With Marked Hair Color Change in a Han Chinese BabyMA, Gwo-Chin; KE, Yu-Yuan; CHANG, Shun-Ping et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 931-934, issn 1552-4825, 4 p.Article

A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax : possible correlation with poor response to fetal therapyMA, Gwo-Chin; LIU, Chin-San; CHANG, Shun-Ping et al.Prenatal diagnosis. 2008, Vol 28, Num 11, pp 1057-1063, issn 0197-3851, 7 p.Article

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor bandingLEE, Ni-Chung; CHANG, Shun-Ping; CHANG, Cheng-Shyong et al.Prenatal diagnosis. 2009, Vol 29, Num 11, pp 1058-1060, issn 0197-3851, 3 p.Article

Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonographyMA, Gwo-Chin; CHANG, Shuenn-Dyh; YU CHANG et al.Fertility and sterility. 2008, Vol 90, Num 4, pp 1279-1282, issn 0015-0282, 4 p.Article

A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya diseaseMING CHEN; KUO, Shou-Jen; LIU, Chin-San et al.Prenatal diagnosis. 2006, Vol 26, Num 3, pp 226-230, issn 0197-3851, 5 p.Article