Medical Genetics242

Pub YearTitleAuthor(s)
2012Continuous renal replacement therapy in neonates weighing less than 3 kg손영배
2007Controversial issues in the legal restriction for Prenatal genetic testing in Korea김현주, 정선용
2019Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2012Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1김현주, 손영배, 안영실, 이수진, 정선용, 최진욱
2010De novo pericentric inversion of chromosome 9 in congenital anomaly.정선용
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
2016Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies손영배
2007Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea김현주
2012Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty손영배
2001Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy.김현주
2015Disease-specific growth charts for Korean infants with Prader-Willi syndrome.손영배
2015Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.손영배
2019Drp1 Phosphorylation Is Indispensable for Steroidogenesis in Leydig Cells정선용
2010Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain고정민, 김찬, 한경림
2015Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.손영배
2016Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation김정현, 박은국, 정선용
2022Effects of Loganin on Bone Formation and Resorption In Vitro and In Vivo김정현, 박은국, 정선용
2004Effects of Pamidronate Treatment on Osteogenesis Imperfecta김대중, 김현주, 이관우, 정윤석
2019Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial손영배
2020Efficacy and Safety of Combined Extracts of Cornus officinalis and Ribes fasciculatum for Body Fat Reduction in Overweight Women김정현, 박은국, 이창근, 정선용
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