Browsing "Journal Papers" by Journal : Journal of human genetics

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Showing results 1 to 20 of 20

Pub YearTitleAuthor(s)
2011A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.김옥화
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
2015A reply to a commentary on identification 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.임신영, 정선용
2005Association analysis of signal transducer and activator of transcription 4 (STAT4) polymorphisms with asthma.박해심
2016Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients손영배
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배, 정선용, 진현석
2012Genetic variability of prostaglandin E2 receptor subtype EP4 gene in aspirin-intolerant chronic urticaria김승현, 박해심, 예영민
2013Genome-wide association study of serum albumin:globulin ratio in Korean populations.진현석
2015GWA meta-analysis of personality in Korean cohorts.조남한
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
2015Identification of FAM13A gene associated with the ratio of FEV1 to FVC in Korean population by genome-wide association studies including gene-environment interactions.조남한
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
2004Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy.박해심
2016KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients정용식
2017Meta-analysis of genome-wide SNP- and pathway-based associations for facets of neuroticism조남한
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
2010TRPV4-pathy, a novel channelopathy affecting diverse systems.김옥화
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