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Prenatal Diagnosis
|
November 30, 2005
Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter)
Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, et al.
Gene
|
August 13, 2013
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, et al.
European Journal of Medical Genetics
|
July 31, 2012
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2025
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Joseph Muenzer, Hernan Amartino, Roberto Giugliani, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
August 23, 2021
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature
Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, et al.
Journal of Chromatography. A
|
November 17, 2009
A method for lactate and pyruvate determination in filter-paper dried blood spots
Chih-Kuang Chuang, Tuen-Jen Wang, Chun-Yan Yeung, et al.
Pediatric Pulmonology
|
February 13, 2013
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment
Shuan-Pei Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Diagnostics (Basel, Switzerland)
|
December 30, 2020
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Journal of Personalized Medicine
|
August 26, 2022
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis
Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, et al.
Frontiers in Genetics
|
February 10, 2026
Case Report: Novel <i>ADAMTSL2</i> compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Page
of 29
Search research articles
Search
Showing results (151-160 of 281) with videos related to
Sort By:
Page
of 29
Prenatal Diagnosis
|
November 30, 2005
Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter)
Chih-Ping Chen, Shuan-Pei Lin, Chyi-Chyang Lin, et al.
Gene
|
August 13, 2013
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, et al.
European Journal of Medical Genetics
|
July 31, 2012
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2025
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Joseph Muenzer, Hernan Amartino, Roberto Giugliani, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
August 23, 2021
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature
Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, et al.
Journal of Chromatography. A
|
November 17, 2009
A method for lactate and pyruvate determination in filter-paper dried blood spots
Chih-Kuang Chuang, Tuen-Jen Wang, Chun-Yan Yeung, et al.
Pediatric Pulmonology
|
February 13, 2013
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment
Shuan-Pei Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Diagnostics (Basel, Switzerland)
|
December 30, 2020
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Journal of Personalized Medicine
|
August 26, 2022
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis
Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, et al.
Frontiers in Genetics
|
February 10, 2026
Case Report: Novel <i>ADAMTSL2</i> compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Page
of 29