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Showing results 1 to 13 of 13

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Issue DateTitleJournal Title
2017A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adultsCLINICAL GENETICS
2021Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond CLINICAL GENETICS
2010Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.CLINICAL GENETICS
2023Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variationsCLINICAL GENETICS
2014Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutationsCLINICAL GENETICS
2017Discovery of pathogenic variants in a large Korean cohort of inherited muscular disordersCLINICAL GENETICS
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
2022Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndromeCLINICAL GENETICS
1999Neural stem cells -- a versatile tool for cell replacement and gene therapy in the central nervous system.CLINICAL GENETICS
2021Null variants in DYSF result in earlier symptom onsetCLINICAL GENETICS
2012Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.CLINICAL GENETICS
2016Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2CLINICAL GENETICS
2017Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutationsCLINICAL GENETICS
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