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논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
Korean Journal of Ophthalmology
2020 .01
[S10-1] Establishing patient-mimicking mutant mice for the development of gene editing therapy
한국실험동물학회 학술발표대회 논문집
2024 .07
Retinitis pigmentosa associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
Korean Journal of Ophthalmology
2020 .01
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides
Yonsei Medical Journal
2018 .01
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
Annals of Laboratory Medicine
2019 .01
A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea
Annals of Pediatirc Endocrinology & Metabolism
2024 .04
Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia
Journal of Clinical Neurology
2020 .01
Ocular Ischemic Syndrome as the Initial Presenting Feature of Cytomegalovirus Retinitis
Korean Journal of Ophthalmology
2018 .01
한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포
Laboratory Medicine Online
2021 .01
Branch Retinal Artery Occlusion Associated with Toxoplasma Retinitis
Korean Journal of Ophthalmology
2020 .01
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
Annals of Laboratory Medicine
2015 .01
Evaluation of lung cancer latency and incidence caused by various administration of urethane to p53-heterozygous null mice
한국실험동물학회 학술발표대회 논문집
2020 .02
Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
Yonsei Medical Journal
2020 .01
쥐 모델에서 회전근 개 파열 후 근육 지방변성을 조절하는 신규인자 규명 및 조절을 통한 지방변성 호전 가능성 탐색
대한견주관절의학회 학술대회논문집
2017 .03
Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022
JOURNAL OF BACTERIOLOGY AND VIROLOGY
2022 .12
전기 아크용접에 의해 유발된 망막병증 1례
대한직업환경의학회 학술대회 논문집
2018 .05
A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
Journal of Clinical Neurology
2021 .10
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1
Journal Of Movement Disorders
2024 .07
Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)
Journal of Laboratory Medicine And Quality Assurance
2021 .01
First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
Journal of Clinical Neurology
2016 .01
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