Arama Sonuçları - Kon‐Ping Lin
- Gösterilen 1 - 8 sonuçlar arası kayıtlar. 8
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Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan Yazar: Yun‐Hsin Hsu, Kon‐Ping Lin, Yuh‐Cherng Guo, Yu‐Shuen Tsai, Yi‐Chu Liao, Yi‐Chung Lee
Baskı/Yayın Bilgisi 2019Artigo -
2
Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan Yazar: Hua‐Chuan Chao, Yi‐Chu Liao, Yo‐Tsen Liu, Yuh‐Cherng Guo, Fu‐Pang Chang, Yi‐Chung Lee, Kon‐Ping Lin
Baskı/Yayın Bilgisi 2019Artigo -
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4
PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort Yazar: 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
Baskı/Yayın Bilgisi 2012Artigo -
5
Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease Yazar: 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
Baskı/Yayın Bilgisi 2013Artigo -
6
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy Yazar: 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
Baskı/Yayın Bilgisi 2017Artigo -
7
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis Yazar: 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
Baskı/Yayın Bilgisi 2018Artigo -
8
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy Yazar: 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
Baskı/Yayın Bilgisi 2023Artigo
Arama Araçları:
İlgili Konular
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