Associated Papers
Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.
Lee SJ et al.
Bmc Ophthalmology, 2025
Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases.
Lee JS et al.
European Journal of Human Genetics : Ejhg, 2021
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
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