Hasil Pencarian - Shuan‐Pei Lin

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  1. 1
    Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

    Assessing the impact of the five senses on quality of life in mucopolysaccharidoses oleh Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa

    Diterbitkan 2020-04-01
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  2. 2
    Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

    Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients oleh Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin

    Diterbitkan 2024-05-01
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  3. 3
    Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man

    Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man oleh Hsiang-Yu Lin, Chi-In Lo, Chih-Kuang Chuang, Shuan-Pei Lin

    Diterbitkan 2015-10-01
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  4. 4
    Clinical Features of Ehlers-Danlos Syndrome

    Clinical Features of Ehlers-Danlos Syndrome oleh Jui-Lung Yen, Shuan-Pei Lin, Ming-Ren Chen, Dau-Ming Niu

    Diterbitkan 2006-01-01
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  5. 5
    Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result

    Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result oleh Chih-Ping Chen, Shuan-Pei Lin, Hui-Bo Li, Yen-Ni Chen, Wayseen Wang

    Diterbitkan 2015-08-01
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  6. 6
    Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta

    Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta oleh Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang

    Diterbitkan 2008-10-01
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  7. 7
    Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)

    Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome) oleh Hsu-Ying Lin, You-Hsin Huang, Shao-Yu Lei, Lee-Jen Chen, Shuan-Pei Lin

    Diterbitkan 2019-01-01
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  8. 8
    Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

    Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism oleh Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

    Diterbitkan 2013-03-01
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  9. 9
    RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia

    RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia oleh Wei-De Lin, Shuan-Pei Lin, Chung-Hsing Wang, Yushin Tsai, Chih-Ping Chen, Fuu-Jen Tsai

    Diterbitkan 2011-01-01
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  10. 10
    Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome

    Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome oleh Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

    Diterbitkan 2013-03-01
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  11. 11
    Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the male carriers in the family

    Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the ma... oleh Chih-Ping Chen, Shuan-Pei Lin, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

    Diterbitkan 2023-09-01
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  12. 12
    X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

    X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child oleh Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su

    Diterbitkan 2008-12-01
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  13. 13
    Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

    Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report oleh Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu

    Diterbitkan 2009-12-01
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  14. 14
    Clinical Features of Osteogenesis Imperfecta in Taiwan

    Clinical Features of Osteogenesis Imperfecta in Taiwan oleh Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang, Dau-Ming Niu

    Diterbitkan 2009-07-01
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  15. 15
    Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

    Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome oleh Chia-Sui Hung, Ju-Li Lin, Yann-Jinn Lee, Shuan-Pei Lin, Mei-Chyn Chao, Fu-Sung Lo

    Diterbitkan 2007-01-01
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  16. 16
    Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome

    Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome oleh Hsiang-Yu Lin, Ming-Ren Chen, Chih-Kuang Chuang, Chi-Yu Huang, Dau-Ming Niu, Shuan-Pei Lin

    Diterbitkan 2011-11-01
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  17. 17
    Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

    Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease oleh Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong

    Diterbitkan 2017-06-01
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  18. 18
    NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

    NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti oleh Pa-Fan Hsiao, Shuan-Pei Lin, Shu-Shien Chiang, Yu-Hung Wu, Hsiu-Chin Chen, Yang-Chih Lin

    Diterbitkan 2010-03-01
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  19. 19
    X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant

    X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant oleh Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, Chun-Chen Lin, Jeng-Daw Tsai

    Diterbitkan 2023-03-01
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  20. 20
    A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

    A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty... oleh Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Wayseen Wang

    Diterbitkan 2014-03-01
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