Browsing "Medical Genetics" by Keyword : DNA Mutational Analysis

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Showing results 6 to 12 of 12

Pub YearTitleAuthor(s)
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김유찬, 김현주, 정선용, 정연훈
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2015VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases.김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호
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