馬偕醫學院機構典藏(Mackay Medical College Institutional Repository):

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2009-01-01

A 12 Mb deletion of 6p24.1->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

Chih-Ping Chen; Chin-Yuan Tzen; Schu-Rern Chern; Fuu-Jen Tsai; Chin-Yuan Hsu; Chen-Chi Lee; Meng-Shan Lee; Chen-Wen Pan; Wayseen Wang

2011-12-01

A 20.5-Mb germline deletion of 13q13.1→q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation

Chih-Ping Chen; Ling-Yuh Kao; Yi-Ning Su; Ming Chen; Shueen-Dyh Chang; Wayseen Wang

2009-12-01

22q 11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization

Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Fuu-Jen Tsai; Jonathan Kwei Hwang; Wayseen Wang

2011-09-01

A 24.2-Mb deletion of 4q12→q21.21 characterized by array CGH in a 13½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty

Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Li-Feng Chen; Wayseen Wang

2010-12-01

A 5.3-Mb duplication of 9p12→p13.1 characterized by array CGH in a female infant with developmental delay

Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai,; Chen-Chi Lee; Chen-Wen Pan; Pei-Chen Wu; Wayseen Wang

2008-07-01

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Chen-Chi Lee; Wayseen Wang

2008-01-01

The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese children.

Fu-Yuan Huang; Tzu-Yang Chang; Ming-Ren Chen; Hung-Chang Lee; Nan-Chang Chiu; Hsin Chi; Chyong-Hsin Hsu; Shuan-Pei Lin; Hsin-Fu Liu; Wei-Fang Chen; Chen-Chung Chu; Marie Lin; Yann-Jinn Lee

2008-02-01

A/C polymorphism in the interleukin-18 coding region among Taiwanese systemic lupus erythematosus patients

Ying-Ju Lin; Lei Wan; Jim Jinn-Chyuan Sheu; Chung-Ming Huang; Cheng-Wen Lin; Yu-Ching Lan; Chih-Ho Lai; Chien-Hui Hung; Yuhsin Tsai,; Chang-Hai Tsai; T-H Lin; Chih-Ping Chen; Fuu-Jen Tsai

2007-12-01

Abnormal prenatal hematological findings in congenital leukemia of Down syndrome with hepatosplenomegaly

Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Hsin-Tsung Ho

2010-03-01

Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome

Chih-Ping Chen; Yi-Ning Su; Chin-Yuan Hsu; Fuu-Jen Tsai; Shu-Chin Chien; Schu-Rern Chern; Meng-Shan Lee; Pei-Chen Wu; Hsiao-En Cindy Chen; Wayseen Wang

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