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International Journal of Molecular Sciences
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March 14, 2026
Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders
Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
October 19, 2016
Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Prenatal Diagnosis
|
March 28, 2006
Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus
Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
October 22, 2018
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
Chih-Ping Chen, Shu-Yuan Chang, Shuan-Pei Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
April 4, 2013
Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry
Chih-Ping Chen, Kwui-Shuai Hwang, Her-Young Su, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2005
A paternally derived inverted duplication of distal 14q with a terminal 14q deletion
Chih-Ping Chen, Schu-Rern Chern, Shuan-Pei Lin, et al.
Prenatal Diagnosis
|
November 28, 2002
Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
Chih-Ping Chen, Tung-Yao Chang, Jin-Chung Shih, et al.
American Journal of Medical Genetics. Part A
|
June 14, 2006
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
January 2, 2017
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
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, et al.
Orphanet Journal of Rare Diseases
|
September 24, 2013
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Shuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, et al.
Page
of 29
Search research articles
Search
Showing results (171-180 of 281) with videos related to
Sort By:
Page
of 29
International Journal of Molecular Sciences
|
March 14, 2026
Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders
Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
October 19, 2016
Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Prenatal Diagnosis
|
March 28, 2006
Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus
Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
October 22, 2018
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
Chih-Ping Chen, Shu-Yuan Chang, Shuan-Pei Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
April 4, 2013
Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry
Chih-Ping Chen, Kwui-Shuai Hwang, Her-Young Su, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2005
A paternally derived inverted duplication of distal 14q with a terminal 14q deletion
Chih-Ping Chen, Schu-Rern Chern, Shuan-Pei Lin, et al.
Prenatal Diagnosis
|
November 28, 2002
Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
Chih-Ping Chen, Tung-Yao Chang, Jin-Chung Shih, et al.
American Journal of Medical Genetics. Part A
|
June 14, 2006
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
January 2, 2017
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
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, et al.
Orphanet Journal of Rare Diseases
|
September 24, 2013
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Shuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, et al.
Page
of 29