| Review Articles |
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Understanding and managing patients with adult rare diseases
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| Jangsup Moon |
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Journal of Genetic Medicine 2024;21:1-5 |
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Using zebrafish as an animal model for studying rare neurological disorders: A human genetics perspective
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| Dilan Wellalage Don, Tae-Ik Choi, Tae-Yoon Kim, Kang-Han Lee, Yoonsung Lee, and Cheol-Hee Kim |
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Journal of Genetic Medicine 2024;21:6-13 |
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Infantile nystagmus syndrome: Promise and pitfalls of genetic testing
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| Eun Hye Oh and Jae-Hwan Choi |
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Journal of Genetic Medicine 2024;21:14-21 |
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| Original Article |
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Mutation spectrum of NF1 gene in Korean unrelated patients with neurofibromatosis 1: Six novel pathogenic variants
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| Sung Hee Han, Eun Joo Kang , Mina Yang, Suekyeung Kim, Sang Gon Lee, and Eun Hee Lee |
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Journal of Genetic Medicine 2024;21:22-30 |
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| Case Reports |
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Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome
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| Soyoung Park, Young-Lim Shin, Go Hun Seo, and Yong Hee Hong |
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Journal of Genetic Medicine 2024;21:31-35 |
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode with m.3243A>G variant involving the cerebellum and basal ganglia
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| Chungmo Koo, Jaejin Yang, Jeong Rye Kim, and Jeesuk Yu |
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Journal of Genetic Medicine 2024;21:36-40 |
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Journal of Genetic Medicine 2024;21:1-40
