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| 1 |
Clinical application of prenatal chromosomal microarray
Chang Ahn Seol;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.43-48,
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| 2 |
Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases
Kang-Min Lee;Jeanho Yun;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.49-56,
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| 3 |
Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
Seung Hwan Oh;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.57-62,
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| 4 |
Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
Bo-Young Kim;Do-Wan Kim;Eunkuk Park;Jeonghyun Kim;Chang-Gun Lee;Hyun-Seok Jin;Seon-Yong Jeong;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.63-75,
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| 5 |
Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
Chong Kun Cheon;Yong Beom Shin;Soo-Yeon Kim;Go Hun Seo;Hane Lee;Changwon Keum;Seung Hwan Oh;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.76-84,
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| 6 |
Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
Dayun Kang;Hwa Young Kim;Jong-Hee Chae;Jung Min Ko;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.85-93,
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| 7 |
Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
Jae Hun Yun;Yong Hee Hong;Go Hun Seo;Young-Lim Shin;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.94-99,
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| 8 |
SLC9A6-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
Hye Ri Bae;Young Ok Kim;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.100-104,
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| 9 |
The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
Jin Young Cho;Tae Kwan Lee;Yoo Mi Kim;Han Hyuk Lim;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.105-110,
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| 10 |
Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
Yoon Sunwoo;Soo Hyun Seo;Ho-Joong Kim;Moon Seok Park;Anna Cho;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.111-114,
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| 11 |
The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
Lia Kim;Hwa Young Kim;Jung Min Ko;
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Korean Society of Medical Genetics and Genomics
, v.19, no.2, pp.115-119,
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