日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes

整合计算机预测和临床证据,以阐明HiFi长读长测序在旁系同源基因中的能力

Kim, Sung Kyung; Jang, Joowon; Kim, Yeseul; Sung, Hobin; Lee, Hyesu; Yim, Hara; Cho, Sung Im; Lee, Jee-Soo; Seong, Moon-Woo

High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches

高分辨率染色体微阵列具有诊断潜力,可通过靶向和非靶向方法检测外显子水平拷贝数变异

Kim, Yeseul; Lee, Jee-Soo; Kim, Boram; Kim, Man Jin; Cho, Sung Im; Chae, Seung Won; Shin, Ho Seob; Lee, Hoyeon; Kim, Ji Yeon; Seong, Moon-Woo

Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis

优化 FSHD 基因座的分子研究:利用单分子光学图谱和 Southern 印迹分析的整合工作流程

Jang, Joowon; Sung, Hobin; Lee, Jung-Ae; Cho, Sung Im; Lee, Jee-Soo; Seong, Moon-Woo

Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome

下一代测序靶基因测序在遗传性骨髓衰竭综合征诊断中的临床应用价值

Kwon, Young Dai; Hong, Kyung Taek; Lee, Juyeon; Sunwoo, Yoon; Kim, Yeseul; Cho, Sung Im; Park, Hyun Jin; Kim, Bo Kyung; Lee, Jee-Soo; Choi, Jung Yoon; Seong, Moon-Woo; Kang, Hyoung Jin

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis

韩国人群中多发性内分泌肿瘤1型的遗传特征和临床表现:一项多中心回顾性分析

Kim, Boram; Lee, Seung Hun; Ahn, Chang Ho; Jang, Han Na; Cho, Sung Im; Lee, Jee-Soo; Lee, Yu-Mi; Kim, Su-Jin; Sung, Tae-Yon; Lee, Kyu Eun; Lee, Woochang; Koh, Jung-Min; Seong, Moon-Woo; Kim, Jung Hee

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B

一个家族患有指甲髌骨综合征,其病因是LMX1B基因的种系嵌合缺失

Jang, Joowon; Im, Hara; Lee, Hyesu; Sung, Hobin; Cho, Sung Im; Lee, Jee-Soo; Ko, Jung Min; Seong, Moon-Woo

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea

韩国外胚层发育不良患者的基因谱分析和诊断策略

Kim, Man Jin; Lee, Jee-Soo; Chae, Seung Won; Cho, Sung Im; Moon, Jangsup; Ko, Jung Min; Chae, Jong-Hee; Seong, Moon-Woo

Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation

基于下一代测序的嵌合体分析在异基因造血细胞移植后早期复发预测中的应用

Heerah Lee, Seung-Won Chae, Sung Im Cho, Jee-Soo Lee, Man Jin Kim, Moon-Woo Seong

High PPFIA1 expression promotes cancer survival by suppressing CD8+ T cells in breast cancer: drug discovery and machine learning approach

高 PPFIA1 表达通过抑制乳腺癌中的 CD8+ T 细胞来促进癌症存活:药物发现和机器学习方法

Jinah Chu, Kyueng-Whan Min, Dong-Hoon Kim, Byoung Kwan Son, Hyung Suk Kim, Un Suk Jung, Mi Jung Kwon, Sung-Im Do

The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project

韩国罕见病基因诊断项目第二阶段:为期六年的国家项目成果

Man Jin Kim, Boram Kim, Heerah Lee, Jee-Soo Lee, Seung Won Chae, Ho Seob Shin, Sung Im Cho, Soo Yeon Kim, Jangsup Moon, Byung Chan Lim, Jung Min Ko, Jong-Hee Chae, Sung Sup Park, Moon-Woo Seong