BROWSE

AJOU Open Repository

Browsing by Ajou Author

researcher image email
손, 영배(Sohn, Young Bae) Currently indexed
[School of Medicine / Graduate School of Medicine] - [Medical Genetics]

Author IDs

ORCID
-
ISNI
000000047379557X
WOS
-
SCOPUS
-
Research areas
Co-Researcher

Showing results 21 to 40 of 80

This table browses all dspace content
Pub YearTitleAuthor(s)
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes손영배, 송형근, 정윤석, 최용준
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2016Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies손영배
2016Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization손영배
2016Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients손영배
2016AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II손영배
2015Isolated patchy heterochromia of the scalp hair.김유찬, 손성향, 손영배
2015Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.손영배
2015Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.손영배
2015Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.손영배
2015Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.손영배
2015A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.손영배
2015The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.손영배, 임신영
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2015Disease-specific growth charts for Korean infants with Prader-Willi syndrome.손영배
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.손영배, 임현이, 정선용, 한재호
1 2 3 4
  • License
    sherpa_romeo
    sherpa_juliet

OAK

Ajou University Medical Information & Media Center 164 Worldcup-ro Yeongtong-gu Suwon 16499 Korea / TEL : 031-219-5312
Copyright (c) Ajou University Medical Information & Media Center All Rights Reserved.
AJOU Open Repository는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.

Browse

Guide 아주대학교 의학문헌정보센터