|
|
Taiwan Academic Institutional Repository >
Browse by Author
|
"li shuan pei"
Showing items 1-17 of 17 (1 Page(s) Totally)
1
View [10|25|50] records per page
| 亞洲大學 |
2018-10 |
Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay
|
陳持平;Chen, Chih-Ping;Cha, Shu-Yuan;Chang, Shu-Yuan;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2018-08 |
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2018-08 |
A 17-year-old boy with Klinefelter syndrome presenting Marfan syndrome-like clinical features of tall stature, scoliosis, arachnodactyly and subluxation of bilateral elbow joints
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2016-12 |
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22->q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder and in
|
陳持平;Chen, Chih-Ping;*;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yen-Ni;Chen, Yen-Ni;Che, Shin-Wen;Chen, Shin-Wen;Ya, Chien-Wen;Yang, Chien-Wen;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2016-12 |
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12->q13.1::) associated with phenotypic abnormalities
|
陳持平;Chen, Chih-Ping;*;Li, Shuan-Pei;Lin, Shuan-Pei;Lin, Yi-Hui;Lin, Yi-Hui;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yen-Ni;Chen, Yen-Ni;Che, Shin-Wen;Chen, Shin-Wen;Ya, Chien-Wen;Yang, Chien-Wen;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2016-12 |
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability
|
陳持平;Chen, Chih-Ping;*;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yen-Ni;Chen, Yen-Ni;Che, Shin-Wen;Chen, Shin-Wen;Ya, Chien-Wen;Yang, Chien-Wen;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2016-10 |
Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome
|
陳持平;Chen, Chih-Ping;*;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yen-Ni;Chen, Yen-Ni;Che, Shin-Wen;Chen, Shin-Wen;Lee, Chen-Chi;Lee, Chen-Chi;Town, Dai-Dyi;Town, Dai-Dyi;Ya, Chien-Wen;Yang, Chien-Wen;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2014-03 |
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2014-03 |
Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes
|
陳持平;Chen, Chih-Ping;Wang, Pu-Tsui;Wang, Pu-Tsui;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Chen, Yu-Ting;Chen, Yu-Ting;Wu, Peih-Shan;Wu, Peih-Shan;Kuo, Yu-Ling;Kuo, Yu-Ling;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2014-02 |
Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Kuo, Yu-Ling;Kuo, Yu-Ling;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
201310 |
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2013-10 |
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2013-07 |
6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay and poor wound healing
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2013-06 |
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2013-03 |
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Su, Yi-Ning;Su, Yi-Ning;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2013-03 |
Prenatal diagnosis of and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3->q23.3) associated with abnormal maternal serum biochemistry
|
陳持平;Chen, Chih-Ping;Su, Yi-Ning;Su, Yi-Ning;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen |
| 亞洲大學 |
2013-03 |
Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism
|
陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Su, Yi-Ning;Su, Yi-Ning;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen |
Showing items 1-17 of 17 (1 Page(s) Totally)
1
View [10|25|50] records per page
|
