Man Jin Kim
18PUBLICATIONS
66CO-AUTHORS
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Publications (18)
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|Jul 30, 2025
High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.Yeseul Kim, Jee-Soo Lee, Boram Kim
|Dec 25, 2023
The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation.Boram Kim, Yo Han Ahn, Jae Hyeon Park
|Jun 30, 2023
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.Heerah Lee, Jung Ae Lee, Hyesu Lee
|Dec 22, 2022
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.Man Jin Kim, Soo Yeon Kim, Jin Sook Lee
|Oct 25, 2022
The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant.Jihoon G Yoon, Seungbok Lee, Sheehyun Kim
|Dec 15, 2021
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.Youngeun Lee, Hyun Jin Park, Hyoung Jin Kang
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Frequent Collaborators
15 joint publications
Moon-Woo Seong
12 joint publications
Sung-Sup Park
5 joint publications
Boram Kim
4 joint publications
Jung Min Ko
4 joint publications
Jee-Soo Lee
4 joint publications
Sung Im Cho
3 joint publications
Jee-Soo Lee
3 joint publications
Young-Gon Kim
2 joint publications
Kyu Hyung Park
2 joint publications
Se Joon Woo
