Jiyoung OH

Yonsei University Health System

South Korea

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Articles (9)

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2024

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Collaborators (5)

Kyungchul Song

Clinical assistant professor

Yonsei University College of Medicine

SOUTH KOREA

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Kyung Won Kim

Yonsei University College of Medicine

SOUTH KOREA

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Jeong Eun Shin

Yonsei University College of Medicine

SOUTH KOREA

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Jinsei Jung

SOUTH KOREA

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Hyung‐Ju Cho

SOUTH KOREA

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Jiyoung OH

Research Interests

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Articles (9)

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

Antisense oligonucleotides in rare neurogenetic disorders

C3 glomerulonephritis with genetically confirmed C3 deficiency in a pediatric patient: a case report

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex

Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea

Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients

Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report

Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond

Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis.

Collaborators (5)

Kyungchul Song

Kyung Won Kim

Jeong Eun Shin

Jinsei Jung

Hyung‐Ju Cho

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