المؤلفون: Min-Hua Tseng, Shih-Hua Lin, Wen-Lang Fan, Ta-Wei Wu, Shuan-Pei Lin, Jhao-Jhuang Ding, I-Jung Tsai, Jeng-Daw Tsai

المصدر: Journal of the Formosan Medical Association, Vol 123, Iss 6, Pp 647-654 (2024)

مصطلحات موضوعية: Genetic association studies, Nephrosis, Congenital, Outcome assessment, Health care, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0929664623004047; https://doaj.org/toc/0929-6646

URL الوصول: https://doaj.org/article/1e170828760c4ebbb1c31b9c481d681c

المؤلفون: Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-Eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho

المصدر: Molecular Genetics and Metabolism Reports, Vol 42, Iss , Pp 101189- (2025)

مصطلحات موضوعية: Dysostosis multiplex, Elosulfase alfa, Morquio A syndrome, Enzyme replacement therapy, MPS IVA, Mucopolysaccharidosis, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426925000047; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/079d6781750d4bd68ee104f772ee66f2

المؤلفون: Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, Hsien-Sung Huang, Feng-Chiao Tsai, Li-Jen Lee, Hsiang-Yu Lin, Hsiang-Po Huang

المصدر: Cell Death and Disease, Vol 15, Iss 4, Pp 1-18 (2024)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-4889

URL الوصول: https://doaj.org/article/e529a6b8ed7e46a396c2e19ae032fe0f

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: Chih-Ping Chen, Shuan-Pei Lin, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 5, Pp 754-756 (2023)

مصطلحات موضوعية: DMD, Genetic counseling, Prenatal diagnosis, Xp21.1 microduplication, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455923001948; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/d193e805302a4b5bb2944002547551f2

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/8d228755c9434cad837fa45f14317e66

المؤلفون: Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)

مصطلحات موضوعية: chromosomal aberration, developmental delay, intellectual disability, multiple congenital anomalies, whole‐exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/17a94807b9c94e02ba57edec90b18254

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: Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)

مصطلحات موضوعية: Neuroscience, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/3ded75f715844309990af3452c9afcb6

المؤلفون: Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, Chun-Chen Lin, Jeng-Daw Tsai

المصدر: Pediatrics and Neonatology, Vol 64, Iss 2, Pp 208-209 (2023)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957222002182; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/1eee1db0edc7474684701bb58f853de0

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: Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 1, Pp 169-172 (2021)

مصطلحات موضوعية: 11q, 11q13.4-q14.3, Tetrasomy, Triplication, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S102845592030303X; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/221a830d89d344b5adb523da04632f2c

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: Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Hearing, Mucopolysaccharidosis, Patient-reported outcomes, Quality of life, Review, Senses, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01368-x; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/83127500a09642e182d4a95cfa155783

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: Hsiang-Yu Lin, Ming-Ren Chen, 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 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Cardiac, Echocardiography, Electrocardiography, Mucopolysaccharidosis III, Valvular heart disease, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1112-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c534731dc2994833a9759c5dce5b378f

المؤلفون: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Methylmalonic acidemia, Propionic acidemia, Newborn screening, Liver transplantation, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1045-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/85a290d3aa23465fa1c92b8324658af5