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School of Medicine / Graduate School of Medicine
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Publication Year
Title
AJOU
Author
2017
Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing
손영배
,
장주영
,
이다근
2017
Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
손영배
,
이은소
2017
STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells
최용준
,
정선용
,
원예연
,
정윤석
2017
Hochu-ekki-to Treatment Improves Reproductive and Immune Modulation in the Stress-Induced Rat Model of Polycystic Ovarian Syndrome
박은국
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
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
송형근
,
손영배
,
최용준
,
정윤석
2017
Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis
최용준
,
정선용
,
원예연
,
정윤석
2017
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
손영배
2016
Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.
손영배
2016
Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation
박은국
,
김정현
,
정선용
2016
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies
손영배
2016
Skin 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 Hybridization
손영배
2016
Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls
이해상
,
권은별
,
정선용
,
황진순
2016
Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens
김연희
,
임현이
,
이용희
,
한재호
,
이기범
,
이정훈
,
소의영
,
정선용
,
김장희
2016
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients
손영배
2016
Caloric restriction improves diabetes-induced cognitive deficits by attenuating neurogranin-associated calcium signaling in high-fat diet-fed mice
김정현
,
정선용
2016
Caloric restriction of db/db mice reverts hepatic steatosis and body weight with divergent hepatic metabolism
김정현
,
정선용
2016
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II
손영배
2013
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
손영배
2015
Isolated patchy heterochromia of the scalp hair.
손영배
,
손성향
,
김유찬
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