Browsing "Pediatrics & Adolescent Medicine" by Keyword : Mutation
Showing results 1 to 16 of 16
| Pub Year | | Title | Author(s) |
| 1997 | | A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency. | 한시훈 |
| 2022 | | Aberrant Notch Signaling Pathway as a Potential Mechanism of Central Precocious Puberty | 심영석, 이해상, 황진순 |
| 2015 | | Atypical hemolytic uremic syndrome: Korean pediatric series. | 박세진 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 2011 | | Genetic basis of congenital and infantile nephrotic syndromes. | 배기수 |
| 2023 | | Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea | 배기수 |
| 1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
| 2019 | | Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea | 정현주 |
| 2018 | | Makorin 1 Regulates Developmental Timing in Drosophila | 김은영, 이해상, 정선용, 황진순 |
| 2003 | | Modulation of the N-type calcium channel gene expression by the alpha subunit of Go. | 김성환, 서해영, 이영돈 |
| 2019 | | Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte | 박준은, 정현주 |
| 2005 | | Mutation analysis of the MCM gene in Korean patients with MMA. | 김성환, 박준은, 정조원, 황진순 |
| 2000 | | Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia. | 한시훈 |
| 2018 | | Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11 | 박규정, 손영배, 이해상, 황진순 |
| 2012 | | The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia | 박준은 |
| 1999 | | Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. | 정조원, 한시훈, 홍창호 |
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