Browsing "Pediatrics & Adolescent Medicine" by Keyword : Phenotype

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Showing results 1 to 6 of 6

Pub YearTitleAJOU Author(s)
2000A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.한시훈
2015Association of TNFSF15 polymorphisms in Korean children with Crohn's disease.장주영
2022Clinical Characteristics of Atopic Dermatitis in Korean School-Aged Children and Adolescents According to Onset Age and Severity이수영, 정경욱
2011Genetic basis of congenital and infantile nephrotic syndromes.배기수
2023Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea배기수
2010Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.고정민, 배기수
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