Browsing "Medical Genetics" by Keyword : Polymerase Chain Reaction

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Showing results 1 to 8 of 8

Pub YearTitleAuthor(s)
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2000Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.김완기, 김현주, 이영미, 하만준
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.김현주, 정선용
2003Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.김현주, 방오영, 이필휴, 허균
2013Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.손영배
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.김현주, 정선용
2010KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.고정민, 황진순
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