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Showing results 1 to 13 of 13

Issue DateTitleAuthor(s)
2020-01Analysis of dementia-related gene variants in APOE epsilon 4 noncarrying Korean patients with early-onset Alzheimer's disease박종은
2020-07Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population박종은
2019-09Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment박종은
2019-09Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T)박종은
2021-01Genomic Analysis of Korean Patient With Microcephaly박종은
2020-06Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy박종은
2020-04Identification of MECP2 Duplication Using Low-Depth Whole-Genome SequencingBased Copy Number Variation Analysis박종은
2019-01A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis박종은
2019-05A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm박종은
2019-05De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea박종은
2019-12Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation박종은
2019-04색소건피증환자의 각막 이형성과 POLH 유전자 변이 확인의 1예박종은
2019-04약한 D 표현형을 가진 한 환자에서 발견된 weak D type 33: 국내 첫 보고박종은
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