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논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
Annals of Laboratory Medicine
2015 .01
[S10-1] Establishing patient-mimicking mutant mice for the development of gene editing therapy
한국실험동물학회 학술발표대회 논문집
2024 .07
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
Korean Journal of Ophthalmology
2020 .01
Ocular Ischemic Syndrome as the Initial Presenting Feature of Cytomegalovirus Retinitis
Korean Journal of Ophthalmology
2018 .01
Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa
Laboratory Medicine Online
2018 .01
A case of atypical hemolytic uremic syndrome associated with the c.1273C>T mutation in the complement C3 gene
Blood Research
2016 .01
Branch Retinal Artery Occlusion Associated with Toxoplasma Retinitis
Korean Journal of Ophthalmology
2020 .01
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
Cancer Research and Treatment
2020 .01
Occult HBV among Anti-HBc Alone: Mutation Analysis of an HBV Surface Gene and Pre-S Gene
Yonsei Medical Journal
2017 .01
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
Journal of Clinical Neurology
2018 .01
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
Retinal Dystrophy Associated with a Novel RP2 Exon1 Deletion with Simultaneous TGFBI Point Mutation in Two Male Siblings: Case Report
Journal of Retina
2024 .05
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome
Annals of Laboratory Medicine
2016 .01
Frequency of K-RAS and N-RAS Gene Mutations in Colorectal Cancers in Southeastern Iran
Asian Pacific journal of cancer prevention : APJCP
2016 .01
Analysis of Mutations in Epidermal Growth Factor Receptor Gene in Korean Patients with Non-small Cell Lung Cancer: Summary of a Nationwide Survey
Journal of Pathology and Translational Medicine
2015 .01
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Journal of Korean Medical Science
2019 .01
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of genetic medicine
2015 .01
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
The Progression of SARS Coronavirus 2 (SARS-CoV2): Mutation in the Receptor Binding Domain of Spike Gene
Immune Network
2020 .10
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