| Review Articles |
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Clinical application of prenatal chromosomal microarray
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| Chang Ahn Seol |
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Journal of Genetic Medicine 2022;19:43-48 |
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Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases
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| Kang-Min Lee and Jeanho Yun |
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Journal of Genetic Medicine 2022;19:49-56 |
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Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
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| Seung Hwan Oh |
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Journal of Genetic Medicine 2022;19:57-62 |
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| Original Articles |
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Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
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| Bo-Young Kim, Do-Wan Kim, Eunkuk Park, Jeonghyun Kim, Chang-Gun Lee, Hyun-Seok Jin, and Seon-Yong Jeong |
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Journal of Genetic Medicine 2022;19:63-75 |
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Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
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| Chong Kun Cheon, Yong Beom Shin, Soo-Yeon Kim, Go Hun Seo, Hane Lee, Changwon Keum, and Seung Hwan Oh |
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Journal of Genetic Medicine 2022;19:76-84 |
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Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
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| Dayun Kang, Hwa Young Kim, Jong-Hee Chae, and Jung Min Ko |
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Journal of Genetic Medicine 2022;19:85-93 |
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| Case Reports |
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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
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| Jae Hun Yun, Yong Hee Hong, Go Hun Seo, and Young-Lim Shin |
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Journal of Genetic Medicine 2022;19:94-99 |
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SLC9A6-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
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| Hye Ri Bae and Young Ok Kim |
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Journal of Genetic Medicine 2022;19:100-104 |
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The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
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| Jin Young Cho, Tae Kwan Lee, Yoo Mi Kim, and Han Hyuk Lim |
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Journal of Genetic Medicine 2022;19:105-110 |
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Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
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| Yoon Sunwoo, Soo Hyun Seo, Ho-Joong Kim, Moon Seok Park, and Anna Cho |
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Journal of Genetic Medicine 2022;19:111-114 |
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The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
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| Lia Kim, Hwa Young Kim, and Jung Min Ko |
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Journal of Genetic Medicine 2022;19:115-119 |
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Journal of Genetic Medicine 2022;19:43-119
