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Browsing "COLLEGE OF MEDICINE[S](의과대학)" byAuthor박종은
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Showing results 1 to 13 of 13
Issue Date
Title
Author(s)
2020-01
Analysis of dementia-related gene variants in APOE epsilon 4 noncarrying Korean patients with early-onset Alzheimer's disease
박종은
2020-07
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population
박종은
2019-09
Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment
박종은
2019-09
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T)
박종은
2021-01
Genomic Analysis of Korean Patient With Microcephaly
박종은
2020-06
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy
박종은
2020-04
Identification of MECP2 Duplication Using Low-Depth Whole-Genome SequencingBased Copy Number Variation Analysis
박종은
2019-01
A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis
박종은
2019-05
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm
박종은
2019-05
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
박종은
2019-12
Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation
박종은
2019-04
색소건피증환자의 각막 이형성과 POLH 유전자 변이 확인의 1예
박종은
2019-04
약한 D 표현형을 가진 한 환자에서 발견된 weak D type 33: 국내 첫 보고
박종은
1
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