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1دورية أكاديمية
المؤلفون: Jaeso Cho, Young Shin Joo, Jihoon G. Yoon, Seung Bok Lee, Soo Yeon Kim, Jong Hee Chae, Yong Jin Kwon
المصدر: Annals of Child Neurology, Vol 32, Iss 3, Pp 167-175 (2024)
مصطلحات موضوعية: rare disease, delayed diagnosis, socioeconomic factors, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://annchildneurol.org/upload/pdf/acn-2024-00472.pdfTest; https://doaj.org/toc/2635-909XTest; https://doaj.org/toc/2635-9103Test
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2دورية أكاديمية
المؤلفون: Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak
المصدر: Diabetes & Metabolism Journal, Vol 48, Iss 3, Pp 482-486 (2024)
مصطلحات موضوعية: diabetes mellitus, genetic diseases, inborn, heteroplasmy, maternal inheritance, mitochondrial diseases, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: http://www.e-dmj.org/upload/pdf/dmj-2023-0078.pdfTest; https://doaj.org/toc/2233-6079Test; https://doaj.org/toc/2233-6087Test
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3دورية أكاديمية
المؤلفون: Hey-Joon Son, Minhye Kim, Hye Jin Kim, Jae So Cho, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae, Woo Joong Kim
المصدر: Annals of Child Neurology, Vol 32, Iss 2, Pp 115-121 (2024)
مصطلحات موضوعية: tubulin, malformations of cortical development, developmental disabilities, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://annchildneurol.org/upload/pdf/acn-2024-00423.pdfTest; https://doaj.org/toc/2635-909XTest; https://doaj.org/toc/2635-9103Test
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4دورية أكاديمية
المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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5دورية أكاديمية
المؤلفون: Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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6دورية أكاديمية
المؤلفون: Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae
المصدر: Clinical and Experimental Pediatrics, Vol 67, Iss 1, Pp 54-56 (2024)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Jaeso Cho, Jiwon Lee, Jihye Kim, Hyunjoo Lee, Min-Jee Kim, Yun Jeong Lee, Mi-Sun Yum, Ji-Hye Byun, Chong Guk Lee, Young-Mock Lee, Jeehun Lee, Jong-Hee Chae
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: spinal muscular atrophy, nusinersen, Spinraza, long-term effect, early treatment, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1294028/fullTest; https://doaj.org/toc/1664-2295Test
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8دورية أكاديمية
المؤلفون: Young Jun Ko, Soo Yeon Kim, Seungbok Lee, Jihoon G. Yoon, Man Jin Kim, Hyeji Jun, Hunmin Kim, Jong-Hee Chae, Ki Joong Kim, Kwangsoo Kim, Byung Chan Lim
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: neurodevelopmental disorders, epilepsy, genetic testing, gene ontology, seizure, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1218706/fullTest; https://doaj.org/toc/1664-2295Test
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9دورية أكاديمية
المؤلفون: Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim
المصدر: Clinical and Experimental Pediatrics, Vol 66, Iss 3, Pp 142-144 (2023)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Hye Jin Kim, Young Joon Ko, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim
المصدر: Annals of Child Neurology, Vol 30, Iss 4, Pp 173-179 (2022)
مصطلحات موضوعية: epilepsy, rolandic, seizures, epilepsy, generalized, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://www.annchildneurol.org/upload/pdf/acn-2022-00115.pdfTest; https://doaj.org/toc/2635-909XTest; https://doaj.org/toc/2635-9103Test