Browsing "Medical Genetics" by Keyword : Phenotype
Showing results 1 to 15 of 15
| Pub Year | | Title | Author(s) |
| 2016 | | AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II | 손영배 |
| 2013 | | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 손영배, 임신영 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2017 | | Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis | 손영배 |
| 2004 | | Endophilin B1 is required for the maintenance of mitochondrial morphology. | 정선용 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2013 | | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 정윤석, 진현석 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
| 2010 | | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. | 고정민 |
| 2007 | | Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence. | 김수정, 정선용, 조혜성 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
| 2010 | | Partial 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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