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Orphanet Journal of Rare Diseases
|
November 8, 2020
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)
Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, et al.
Journal of the Chinese Medical Association : JCMA
|
July 7, 2010
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan
Kang-Hsiang Cheng, Mei-Ying Liu, Chuan-Hong Kao, et al.
Orphanet Journal of Rare Diseases
|
April 4, 2019
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2014
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A)
Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, et al.
Molecular Genetics & Genomic Medicine
|
June 20, 2019
Functional independence of Taiwanese patients with mucopolysaccharidoses
Chung-Lin Lee, Hsiang-Yu Lin, Chih-Kuang Chuang, et al.
Journal of the Chinese Medical Association : JCMA
|
March 18, 2017
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
Fang-Chih Tsai, Han-Jui Lee, An-Guor Wang, et al.
American Journal of Medical Genetics. Part A
|
September 11, 2010
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
Shin-Yu Lin, Chien-Nan Lee, Chia-Cheng Hung, et al.
Diagnostics (Basel, Switzerland)
|
October 16, 2025
Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale
Chung-Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang, et al.
BMJ Open
|
October 11, 2020
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Derralynn A Hughes, Patricio Aguiar, Patrick B Deegan, et al.
Journal of Personalized Medicine
|
November 27, 2021
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, et al.
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of 19
Search research articles
Search
Showing results (171-180 of 184) with videos related to
Sort By:
Page
of 19
Orphanet Journal of Rare Diseases
|
November 8, 2020
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)
Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, et al.
Journal of the Chinese Medical Association : JCMA
|
July 7, 2010
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan
Kang-Hsiang Cheng, Mei-Ying Liu, Chuan-Hong Kao, et al.
Orphanet Journal of Rare Diseases
|
April 4, 2019
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2014
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A)
Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, et al.
Molecular Genetics & Genomic Medicine
|
June 20, 2019
Functional independence of Taiwanese patients with mucopolysaccharidoses
Chung-Lin Lee, Hsiang-Yu Lin, Chih-Kuang Chuang, et al.
Journal of the Chinese Medical Association : JCMA
|
March 18, 2017
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
Fang-Chih Tsai, Han-Jui Lee, An-Guor Wang, et al.
American Journal of Medical Genetics. Part A
|
September 11, 2010
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
Shin-Yu Lin, Chien-Nan Lee, Chia-Cheng Hung, et al.
Diagnostics (Basel, Switzerland)
|
October 16, 2025
Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale
Chung-Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang, et al.
BMJ Open
|
October 11, 2020
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Derralynn A Hughes, Patricio Aguiar, Patrick B Deegan, et al.
Journal of Personalized Medicine
|
November 27, 2021
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, et al.
Page
of 19