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Showing results 1 to 9 of 9

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Issue Date	Title	Journal Title
2022	Analysis of trio test in neurodevelopmental disorders	FRONTIERS IN PEDIATRICS
2023	Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia	BMC MEDICAL GENOMICS
2023	Genetic diagnosis of inborn errors of immunity using clinical exome sequencing	FRONTIERS IN IMMUNOLOGY
2022	Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer	CANCER RESEARCH AND TREATMENT
2015	Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots	ANNALS OF LABORATORY MEDICINE
2016	t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia	ANNALS OF LABORATORY MEDICINE
2020	Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy	BRAIN & DEVELOPMENT
2023	The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2022	조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고	Laboratory Medicine Online