台兒TMAMA

編號： 16
2013/12 Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review
作者：Chih-Ping Chen, Yi-Ning Su, Tzu-Hung Lin, Tung-Yao Chang, Jun-Wei Su, Wayseen Wang
發表期刋： Taiwanese Journal of Obstetrics and Gynecology , Volume 52 , Issue 4 , 580 - 585

編號： 17
2013/09 Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy
作者：Chih-Ping Chen, Tung-Yao Chang, Wan-Yuo Guo, Yi-Ning Su, Yi-Yung Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
發表期刋： Taiwanese Journal of Obstetrics and Gynecology , Volume 52 , Issue 3 , 415 - 419

編號： 18
2013/09 Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II
作者：Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang
發表期刋： Taiwanese Journal of Obstetrics and Gynecology , Volume 52 , Issue 3 , 420 - 425

編號： 19
2013/06 Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome
作者：Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang
發表期刋： Taiwanese Journal of Obstetrics and Gynecology, Volume 52, Issue 2, 2013, Pages 273-277

編號： 20
2013/04 Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization
作者：Chih-Ping Chen, Chen-Ju Lin, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Yu-Ting Chen, Jun-Wei Su, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang
發表期刋： Gene, Volume 519, Issue 1, 2013, Pages 164-168