Zoekresultaten - Kon‐Ping Lin
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Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan door Yun‐Hsin Hsu, Kon‐Ping Lin, Yuh‐Cherng Guo, Yu‐Shuen Tsai, Yi‐Chu Liao, Yi‐Chung Lee
Gepubliceerd in 2019Artigo -
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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort door Yi‐Chung Lee, Ming‐Jen Lee, Hsiang‐Yu Yu, Chien Chen, Chang-Hung Hsu, Kon‐Ping Lin, Kwong‐Kum Liao, Ming‐Hong Chang, Yi‐Chu Liao, Bing‐Wen Soong
Gepubliceerd in 2012Artigo -
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Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease door Bing‐Wen Soong, Yen‐Hua Huang, Pei‐Chien Tsai, Chien‐Chang Huang, Hung-Chuan Pan, Yi-Chun Lu, Hsin-Ju Chien, Tze-Tze Liu, Ming-Hong Chang, Kon-Ping Lin, Pang‐Hsien Tu, Lung‐Sen Kao, Yi‐Chung Lee
Gepubliceerd in 2013Artigo -
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy door Pei‐Chien Tsai, Bing‐Wen Soong, Inès Mademan, Yen‐Hua Huang, Chia-Rung Liu, Cheng‐Tsung Hsiao, Hung-Ta Wu, Tze-Tze Liu, Yo-Tsen Liu, Yen-Ting Tseng, Kon-Ping Lin, Ueng‐Cheng Yang, Ki Wha Chung, Byung‐Ok Choi, Garth A. Nicholson, Marina Kennerson, Chih‐Chiang Chan, Peter De Jonghe, Tzu-Hao Cheng, Yi‐Chu Liao, Stephan Züchner, Jonathan Baets, Yi‐Chung Lee
Gepubliceerd in 2017Artigo -
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Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis door David Adams, Alejandra González‐Duarte, William O’Riordan, Chih‐Chao Yang, Mitsuharu Ueda, Arnt V. Kristen, Ivailo Tournev, Hartmut Schmidt, Teresa Coelho, John L. Berk, Kon-Ping Lin, Giuseppe Vita, Shahram Attarian, Violaine Planté‐Bordeneuve, Michelle M. Mezei, Josep M. Campistol, Juan Buades, Thomas H. Brannagan, Byoung J. Kim, Jeeyoung Oh, Yeşim Parman, Yoshiki Sekijima, Philip N. Hawkins, Scott D. Solomon, Michael Polydefkis, P. James B. Dyck, Pritesh J. Gandhi, Sunita Goyal, Jihong Chen, Andrew Strahs, Saraswathy V. Nochur, Marianne T. Sweetser, Pushkal Garg, Akshay Vaishnaw, Jared Gollob, Ole B. Suhr
Gepubliceerd in 2018Artigo -
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Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy door Teresa Coelho, Wilson Marques, Noel R. Dasgupta, Chi‐Chao Chao, Yeşim Parman, Marcondes C. França, Yuh‐Cherng Guo, Jonas Wixner, Long‐Sun Ro, Cristian Calandra, Pedro André Kowacs, John L. Berk, Laura Obici, Fábio Barroso, Markus Weiler, Isabel Conceição, Shiangtung W. Jung, Gustavo Büchele, Michela Brambatti, Jersey Chen, Steven G. Hughes, Eugene Schneider, Nicholas J. Viney, Ahmad Masri, Morie R. Gertz, Yukio Ando, Julian D. Gillmore, Sami Khella, P. James B. Dyck, Márcia Waddington‐Cruz, Anna Mazzeo, Aikaterini Papagianni, Mazen M. Dimachkie, Ioannis Zaganas, Edward Gane, Marco Luigetti, Lucía Galán Dávila, Michelle M. Mezei, Juan González Moreno, Pascal Cintas, Davide Pareyson, Rebecca Traub, Julie Khoury, Conrado J. Estol, Merrilee Needham, David Adams, Michael Polydefkis, Thomas H. Brannagan, Vera Bril, Shahram Attarian, Marcelo Rugiero, B. Jane Distad, Eleni Zamba Papanicolaou, Kon‐Ping Lin, Merrill D. Benson, Morton Scheinberg
Gepubliceerd in 2023Artigo
Zoekinstrumenten:
Gerelateerde Onderwerpen
Medicine
Biology
Gene
Genetics
Mutation
Disease
Internal medicine
Pathology
Amyloidosis
Transthyretin
Exome
Exome sequencing
Genotype
MFN2
Mitochondrial DNA
mitochondrial fusion
Alternative medicine
Bioinformatics
Cancer research
Clinical endpoint
Cohort
Dermatology
Dyskinesia
Gene duplication
Genetic diagnosis
Genetic heterogeneity
Genetic testing
Genotype-phenotype distinction
Haplotype
Hereditary motor and sensory neuropathy