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List of works by Jung Min Ko

A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up

scientific article published on 27 November 2019

A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report

scientific article published in 2022

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy ⬇️

scientific article published on 30 June 2020

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

scientific article published in July 2018

Chromosomal Microarray: Application for Congenital Heart Diseases.

scientific article

Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.

scientific article published in November 2018

Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenital

scientific article published on 10 August 2020

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

scientific article published on 10 August 2020

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis

scientific article published on 05 April 2019

KISS1 gene polymorphisms in Korean girls with central precocious puberty

scientific article

Living donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis: report of a case.

scientific article published on 27 February 2014

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

scientific article published on 22 January 2015

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

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