Хайлтын үр дүнгүүд - Jong‐Hee Chae

Үр дүнг сайжруулах
  1. 1
    Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

    Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders -н Jong‐Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Epilepsy surgery in children: outcomes and complications

    Epilepsy surgery in children: outcomes and complications -н Seung-Ki Kim, Kyu‐Chang Wang, Yong-Seung Hwang, Ki Joong Kim, Jong‐Hee Chae, In-One Kim, Byung-Kyu Cho

    Хэвлэсэн 2008
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    Artigo
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  3. 3
    The Correlation Analysis of Functional Factors and Age with Duchenne Muscular Dystrophy

    The Correlation Analysis of Functional Factors and Age with Duchenne Muscular Dystrophy -н Il‐Young Jung, Jong‐Hee Chae, Sue K. Park, Je Ho Kim, Jungyoon Kim, Sang Joon Kim, Moon Suk Bang

    Хэвлэсэн 2012
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    Artigo
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  4. 4
    Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing

    Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing -н Jihoon G. Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong‐Hee Chae

    Хэвлэсэн 2024
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    Artigo
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  5. 5
    Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

    Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform -н Byung Chan Lim, Soo‐Youn Lee, Jaeik Shin, Jong‐Il Kim, Hee Hwang, Kwang J. Kim, Yong Seung Hwang, Jeong‐Sun Seo, Jong‐Hee Chae

    Хэвлэсэн 2011
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    Artigo
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  6. 6
    Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?

    Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers? -н Jieun Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong‐Hee Chae, Ki Joong Kim, Sohee Oh, Eun Young Kim, Jeon‐Soo Shin

    Хэвлэсэн 2020
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    Artigo
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  7. 7
    Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

    Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population -н Sangmoon Lee, Jihae Seo, Jinman Park, Jae‐Yong Nam, Ahyoung Choi, Jason S. Ignatius, Robert Bjornson, Jong‐Hee Chae, In‐Jin Jang, Sanghyuk Lee, Woong‐Yang Park, Daehyun Baek, Murim Choi

    Хэвлэсэн 2017
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    Artigo
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  8. 8
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia -н Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    Хэвлэсэн 2015
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    Artigo
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  9. 9
    Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus

    Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus -н Seong‐Keun Yoo, Byung Chan Lim, Jiyoung Byeun, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Joon Ho Lee, Joong Shin Park, Yong-Sun Lee, Junghyun Namkung, Jungsun Park, Seungbok Lee, Jong-Yeon Shin, Jeong‐Sun Seo, Jong‐Il Kim, Jong‐Hee Chae

    Хэвлэсэн 2015
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    Artigo
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  10. 10
    Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans

    Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans -н Seungbok Lee, Jihoon G. Yoon, Juhyeon Hong, T. Kim, Narae Kim, Jana Vandrovcová, Wai Yan Yau, Jaeso Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jungmin Choi, Jangsup Moon, Jong‐Hee Chae

    Хэвлэсэн 2024
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    Artigo
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  11. 11
    Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

    Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173 -н Jieun Seo, Jung-Ah Kang, Dong In Suh, Eun-Byeol Park, Chorong Lee, Sun Ah Choi, Soo Yeon Kim, Yeji Kim, Sang-Heon Park, Michael Ye, Soonhak Kwon, June Dong Park, Byung Chan Lim, Dong Hun Lee, Suk-Jo Kang, Murim Choi, Sung‐Gyoo Park, Jong‐Hee Chae

    Хэвлэсэн 2016
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    Carta
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  12. 12
    ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

    ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy -н Kyu-Hee Han, Doo‐Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K. D. Kim, Jaekwang Lee, Eunyoung Yi, Jong‐Min Kim, Jeong‐Whun Kim, Jong‐Hee Chae, Seung Ha Oh, Woong‐Yang Park, Byung Yoon Choi

    Хэвлэсэн 2017
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    Artigo
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  13. 13
    A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

    A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population -н J. Lee, Jean Lee, Sungwon Jeon, Jeong-Ha Lee, Insu Jang, Jin Ok Yang, Soojin Park, Byung-Wook Lee, Jinwook Choi, Byung‐Ok Choi, Heon Yung Gee, Jaeseong Oh, In‐Jin Jang, Sanghyuk Lee, Daehyun Baek, Youngil Koh, Sung‐Soo Yoon, Young-Joon Kim, Jong‐Hee Chae, Woong‐Yang Park, Jong Bhak, Murim Choi

    Хэвлэсэн 2022
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    Artigo
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  14. 14
    Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

    Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype -н Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B.A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong‐Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J.F. Letteboer, Sylvia E. C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman

    Хэвлэсэн 2017
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    Artigo
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  15. 15
    Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

    Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms -н Hyunglok Chung, Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo, Lita Duraine, Sina Sadeghzadeh, David Li‐Kroeger, Robert E. Schmidt, Alan Pestronk, Jill A. Rosenfeld, Lindsay C. Burrage, Mitchell J. Herndon, Shan Chen, Amelle Shillington, Marissa Vawter‐Lee, Robert J. Hopkin, Jackeline Rodriguez‐Smith, Michael Henrickson, Brendan Lee, Ann B. Moser, Richard O. Jones, Paul A. Watkins, Taekyeong Yoo, Soe Mar, Murim Choi, Robert C. Bucelli, Shinya Yamamoto, Hyun Kyoung Lee, Carlos E. Prada, Jong‐Hee Chae, Tiphanie P. Vogel, Hugo J. Bellen

    Хэвлэсэн 2020
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    Artigo
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  16. 16
    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

    Defining the phenotypic spectrum of <i>SLC6A1</i> mutations -н Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna‐Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaëtan Lesca, Marie‐Thérèse Abi‐Warde, Jamel Chelly, Amélie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen‐Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong‐Hee Chae, Desiree Czapansky-Beilman, Sara Reichert, Manuela Pendziwiat, Judith Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Élise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica Shaw, Laura Rosa Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, J Gordon Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

    Хэвлэсэн 2018
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    Artigo
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  17. 17
    A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

    A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy -н Nathalie Goemans, Eugenio Mercuri, Е. Д. Белоусова, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, Abelardo Araújo, Enrico Bertini, Peter Born, Claude Cancès, B. Chabrol, Jong‐Hee Chae, J. Colomer Oferil, Giacomo P. Comi, J. Cuisset, Guy D’Anjou, Isabelle Desguerre, Ricardo Erazo Torricelli, Raúl G. Escobar, David Feder, Alessandra Ferlini, Roberto Giugliani, Erik Henricson, Ágnes Herczegfalvi, Yuh‐Jyh Jong, Shigemi Kimura, Janbernd Kirschner, Karin Kleinsteuber, Anna Kostera‐Pruszczyk, Martin Kudr, Wolfgang Mueller‐Felber, Erik H. Niks, Katsuhisa Ogata, Concetta Palermo, Marika Pane, Samuel Ignacio Pascual Pascual, Yann Péréon, Salmo Raskin, Magnhild Rasmussen, U.C. Reed, Ulrike Schara, Kathryn Selby, Cláudia Ferreira da Rosa Sobreira, Yasuhiro Takeshima, Juan J. Vílchez, Gian Luca Vita, Petr Vondráček, Gert Wiegand, Ekkehard Wilichowski

    Хэвлэсэн 2017
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    Artigo
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  18. 18
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder -н Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

    Хэвлэсэн 2021
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    Artigo
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  19. 19
    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial -н Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kamińska, Janbernd Kirschner, Francesco Muntoni, A. Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B. Shieh, H. Lee Sweeney, Haluk Topaloğlu, M. Tulinius, Juan J. Vílchez, Thomas Voït, Brenda Wong, Gary Elfring, Hans Kröger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Ferreira de Souza, Robert J. Spiegel, Stuart W. Peltz, Eugenio Mercuri, Lindsay N. Alfano, Michelle Eagle, M. James, Linda Lowes, Anna Mayhew, Elena Mazzone, Leslie Nelson, Kristy Rose, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Enrico Bertini, Clemens Bloetzer, Lausanne Canton de Vaud, Russell J. Butterfield, B. Chabrol, Jong‐Hee Chae, Daehak-ro Jongno-gu, Giacomi Pietro Comi, Basil T. Darras, Jahannaz Dastgir, Isabelle Desguerre, Raúl G. Escobar, Erika Finanger, Michela Guglieri, Imelda Hughes, Susan T. Iannaccone, Kristi Jones, Peter Karachunski, Martin Kudr, Timothy Lotze, Jean K. Mah, Katherine D. Mathews, Yoram Nevo, Julie Parsons, Yann Péréon, Alexandra Prufer de Queiroz Campos Araújo, J. Ben Renfroe, Maria Bernadete Dutra de Resende, Monique M. Ryan, Kathryn Selby, Gihan Tennekoon, Giuseppe Vita

    Хэвлэсэн 2017
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    Artigo
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  20. 20
    A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

    A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy -н Ronald G. Victor, H. Lee Sweeney, Richard S. Finkel, Craig M. McDonald, Barry J. Byrne, Michelle Eagle, Nathalie Goemans, Krista Vandenborne, Alberto Dubrovsky, Haluk Topaloğlu, M. Carrie Miceli, Pat Furlong, John Landry, Robert M. Elashoff, David A. Cox, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Е. Д. Белоусова, Enrico Bertini, John F. Brandsema, Claudio Bruno, W. Bryan Burnette, Russell J. Butterfield, Barry J. Byrne, Craig Campbell, Jose Carlo, Jong‐Hee Chae, Saleel Chandratre, Giacomo P. Comi, Anne M. Connolly, Imelda J. M. de Groot, Nicolas Deconinck, Joseph Dooley, Alberto Dubrovsky, Julien Durigneux, Erika Finanger, Richard S. Finkel, Loren M. Frank, Nathalie Goemans, Amy Harper, Ayako Hattori, Özlem Hergüner, Susan T. Iannaccone, Joanne Janas, Yuh‐Jyh Jong, Janbernd Kirschner, Hirofumi Komaki, Nancy L. Kuntz, Wang‐Tso Lee, Edward Leung, Jean K. Mah, Katherine D. Mathews, Craig M. McDonald, Eugenio Mercuri, Hugh J. McMillan, Wolfgang Mueller‐Felber, Adolfo López de Munaín, Akinori Nakamura, Erik H. Niks, Katsuhisa Ogata, Samuel Ignacio Pascual Pascual, Elena Pegoraro, Yann Péréon, Ben Renfroe, Ratna Bhavaraju Sanka, Jens Schallner, Ulrike Schara, Kathryn Selby, Isabel Illa Sendra, Laurent Servais, Edward C. Smith, Susan Sparks, Haluk Topaloğlu, R Medina Victor, Juan J. Vílchez, Matthew Wicklund, Ekkehard Wilichoswki, Brenda Wong

    Хэвлэсэн 2017
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    Artigo
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