Browsing "Medical Genetics" by Journal : Journal of human genetics

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Showing results 6 to 11 of 11

Pub YearTitleAuthor(s)
2013High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.손영배
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.김현주, 정선용
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2014Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.이기영, 임신영, 정선용
2010Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.진현석
2013The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.손영배
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