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Current Genomics
|
November 14, 2025
Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review
Yung-Hsiu Lu, Yann-Jang Chen, Shan-Ju Lin, et al.
Cornea
|
July 28, 2023
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
Tsai-Chu Yeh, Chih-Chien Hsu, Yung-Hsiu Lu, et al.
Molecular Genetics and Metabolism Reports
|
October 21, 2024
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
Chih-Hsuan Lu, Chia-Feng Yang, Yun-Ru Chen, et al.
Blood Cells, Molecules & Diseases
|
June 5, 2012
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
Yu-Hsiu Huang, Chang-Long Tai, Yung-Hsiu Lu, et al.
Journal of the Endocrine Society
|
May 25, 2026
Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism
Sheng-Bin Liang, Chih-Ya Cheng, Yun-Ru Chen, et al.
Journal of Clinical Lipidology
|
April 26, 2015
Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
Cheng-Hung Huang, Pao-Chin Chiu, Hao-Chuan Liu, et al.
American Journal of Medical Genetics. Part A
|
September 6, 2025
Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease
Chih-Hsuan Lu, Dau-Ming Niu, Yuh-Jing Yeou, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
December 18, 2014
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
Yung-Hsiu Lu, Li-Mei Cheng, Yu-Hsiu Huang, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 20, 2009
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
Dau-Ming Niu, Ju-Hui Hsu, Kah-Wai Chong, et al.
Gene
|
August 23, 2012
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
Jeng-Jer Shieh, Yung-Hsiu Lu, Shi-Wei Huang, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Current Genomics
|
November 14, 2025
Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review
Yung-Hsiu Lu, Yann-Jang Chen, Shan-Ju Lin, et al.
Cornea
|
July 28, 2023
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
Tsai-Chu Yeh, Chih-Chien Hsu, Yung-Hsiu Lu, et al.
Molecular Genetics and Metabolism Reports
|
October 21, 2024
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
Chih-Hsuan Lu, Chia-Feng Yang, Yun-Ru Chen, et al.
Blood Cells, Molecules & Diseases
|
June 5, 2012
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
Yu-Hsiu Huang, Chang-Long Tai, Yung-Hsiu Lu, et al.
Journal of the Endocrine Society
|
May 25, 2026
Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism
Sheng-Bin Liang, Chih-Ya Cheng, Yun-Ru Chen, et al.
Journal of Clinical Lipidology
|
April 26, 2015
Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
Cheng-Hung Huang, Pao-Chin Chiu, Hao-Chuan Liu, et al.
American Journal of Medical Genetics. Part A
|
September 6, 2025
Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease
Chih-Hsuan Lu, Dau-Ming Niu, Yuh-Jing Yeou, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
December 18, 2014
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
Yung-Hsiu Lu, Li-Mei Cheng, Yu-Hsiu Huang, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 20, 2009
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
Dau-Ming Niu, Ju-Hui Hsu, Kah-Wai Chong, et al.
Gene
|
August 23, 2012
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
Jeng-Jer Shieh, Yung-Hsiu Lu, Shi-Wei Huang, et al.
Page
of 2