المؤلفون: Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Diagnostics, Vol 14, Iss 24, p 2809 (2024)

مصطلحات موضوعية: Lesch–Nyhan syndrome, HPRT1 gene, hyperuricemia, developmental delay, hypotonia, self-mutilation, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/14/24/2809; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/8e7e004e24054f828e7dd709bc680101

المؤلفون: Chung‐Lin Lee, Yeun‐Wen Chang, Hsiang‐Yu Lin, Hung‐Chang Lee, Ting‐Chi Yeh, Li‐Ching Fang, Ni‐Chung Lee, Jeng‐Daw Tsai, Shuan‐Pei Lin

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)

مصطلحات موضوعية: albinism, CLCN7 variant, hypogammaglobulinemia, lysosomal acidification, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/9d06fb6cc5c045609567437446f84d3c

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: muscular disorders, muscular dystrophies, congenital myopathies, whole exome sequencing, mutational diversity, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1365729/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/018bcbfda5d24cb1a20ec3e3bac830b5

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Diagnostics, Vol 14, Iss 16, p 1815 (2024)

مصطلحات موضوعية: Kabuki syndrome, KMT2D, phenotypic heterogeneity, Taiwan, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/14/16/1815; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/02c1200cf9204d7da31eabca4f7bccaf

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Diagnostics, Vol 14, Iss 8, p 846 (2024)

مصطلحات موضوعية: congenital heart defect, Kabuki syndrome, KMT2D gene, Taiwan, Medicine (General), R5-920

Relation: https://www.mdpi.com/2075-4418/14/8/846; https://doaj.org/toc/2075-4418; https://doaj.org/article/8d228755c9434cad837fa45f14317e66

الاتاحة: https://doi.org/10.3390/diagnostics14080846
https://doaj.org/article/8d228755c9434cad837fa45f14317e66

المؤلفون: Chung-Lin Lee, Ying-Hsu Chang, Chung-Yi Liu, Ming-Li Hsieh, Liang-Kang Huang, Yuan-Cheng Chu, Hung-Cheng Kan, Po-Hung Lin, Kai-Jie Yu, Cheng-Keng Chuang, Chun-Te Wu, See-Tong Pang, I-Hung Shao

المصدر: Investigative and Clinical Urology, Vol 63, Iss 5, Pp 546-553 (2022)

مصطلحات موضوعية: nonsteroidal anti-androgens, prognosis, prostate-specific antigen, prostatic neoplasms, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.icurology.org/pdf/10.4111/icu.20210450; https://doaj.org/toc/2466-0493; https://doaj.org/toc/2466-054X

URL الوصول: https://doaj.org/article/699b5546716a47c28c11e5b1fc17a94f

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Journal of the Formosan Medical Association, Vol 121, Iss 3, Pp 712-717 (2022)

مصطلحات موضوعية: Mucopolysaccharidosis, Hydrops fetalis, Enzyme replacement therapy, Glycosaminoglycan, Sly syndrome, Taiwan, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0929664621003557; https://doaj.org/toc/0929-6646

URL الوصول: https://doaj.org/article/40cbd7313bc04f238e5b2ea1d994c105

المؤلفون: Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Cardiac hypertrophy, Echocardiography, Mucopolysaccharidosis II, Valvular heart disease, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c4c18a996dc746a387503e1600fc2db7

المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Early diagnosis, Mucopolysaccharidosis, Newborn screening, Survival, Taiwan, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01598-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1a7cb82677974c78a14f127068c04131

المؤلفون: Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee, Chih-Ping Chen

المصدر: Diagnostics; Volume 12; Issue 10; Pages: 2306

مصطلحات موضوعية: small supernumerary marker chromosomes, mosaic partial tetrasomy 6p, trisomy 6p, copy number variation sequencing, triplosensitivity

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12102306

الاتاحة: https://doi.org/10.3390/diagnostics12102306

المؤلفون: Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 17; Pages: 9979

مصطلحات موضوعية: mucopolysaccharidosis, glycosaminoglycan (GAG), autosomal recessive inheritance, X-linked recessive inheritance, variant allele, GAG-derived disaccharide

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23179979

الاتاحة: https://doi.org/10.3390/ijms23179979

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Journal of Personalized Medicine; Volume 12; Issue 8; Pages: 1338

مصطلحات موضوعية: mucopolysaccharidosis type IVA, Morquio A, enzyme replacement therapy, elosulfase alfa, meta-analysis

وصف الملف: application/pdf

Relation: Methodology, Drug and Device Discovery; https://dx.doi.org/10.3390/jpm12081338

الاتاحة: https://doi.org/10.3390/jpm12081338

المؤلفون: Yu-Min Syu, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Journal of Personalized Medicine; Volume 12; Issue 8; Pages: 1205

مصطلحات موضوعية: independent living, osteogenesis imperfecta, Taiwan, WeeFIM

وصف الملف: application/pdf

Relation: Methodology, Drug and Device Discovery; https://dx.doi.org/10.3390/jpm12081205

الاتاحة: https://doi.org/10.3390/jpm12081205

المؤلفون: Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Journal of Personalized Medicine; Volume 12; Issue 5; Pages: 817

مصطلحات موضوعية: Williams syndrome, cardiovascular defect, supravalvular aortic stenosis, branch pulmonary stenosis, Taiwan

وصف الملف: application/pdf

Relation: Methodology, Drug and Device Discovery; https://dx.doi.org/10.3390/jpm12050817

الاتاحة: https://doi.org/10.3390/jpm12050817

المؤلفون: Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo, Pei-Wen Hung, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Journal of Personalized Medicine; Volume 12; Issue 7; Pages: 1023

مصطلحات موضوعية: enzyme replacement therapy, genotype-phenotype correlation, glycosaminoglycans, hematopoietic stem cell transplantation, mucopolysaccharidosis II (MPS II), newborn screening program

وصف الملف: application/pdf

Relation: Methodology, Drug and Device Discovery; https://dx.doi.org/10.3390/jpm12071023

الاتاحة: https://doi.org/10.3390/jpm12071023

المؤلفون: Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Children, Vol 9, Iss 905, p 905 (2022)

مصطلحات موضوعية: Costello syndrome, RASopathy, failure to thrive, dysmorphism, nutritional status, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2227-9067/9/6/905; https://doaj.org/toc/2227-9067; https://doaj.org/article/61954a8a1b0a4c36a899bf12db72a5ac

الاتاحة: https://doi.org/10.3390/children9060905
https://doaj.org/article/61954a8a1b0a4c36a899bf12db72a5ac

المؤلفون: Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Pediatrics and Neonatology, Vol 60, Iss 4, Pp 453-460 (2019)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957218302092; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/f29b8a4d59384effb36b6700a9a7b897

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100768- (2021)

مصطلحات موضوعية: PIK3R1, Short stature, SHORT syndrome, Whole exome sequencing, Taiwan, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000628; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/b168780cf3bd4d85b8d8c41060a2b584

المؤلفون: Hsiang-Yu Lin (3522473), Ming-Ren Chen (230865), Chung-Lin Lee (10186137), Shan-Miao Lin (5700116), Chung-Lieh Hung (404782), Dau-Ming Niu (3522470), Tung-Ming Chang (8162562), Chih-Kuang Chuang (163375), Shuan-Pei Lin (10186140)

مصطلحات موضوعية: Medicine, Genetics, Ecology, Mental Health, Biological Sciences not elsewhere classified, Cardiac hypertrophy, Echocardiography, Mucopolysaccharidosis II, Valvular heart disease

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Natural_progression_of_cardiac_features_and_long-term_effects_of_enzyme_replacement_therapy_in_Taiwanese_patients_with_mucopolysaccharidosis_II/14100516

الاتاحة: https://doi.org/10.6084/m9.figshare.14100516.v1

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Medicina; Volume 58; Issue 1; Pages: 15

مصطلحات موضوعية: autism spectrum disorder, Taiwan, array-CGH

وصف الملف: application/pdf

Relation: Genetics; https://dx.doi.org/10.3390/medicina58010015

الاتاحة: https://doi.org/10.3390/medicina58010015