Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View

por Jang, Woori, Park, Joonhong, Chae, Hyojin, Kim, Myungshin
Publicado 2022

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations

por Park, Shin Hae, Kim, Man Soo, Chae, Hyojin, Kim, Yonggoo, Kim, Myungshin
Publicado 2012

X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree

por Ryu, Hyejin, Park, Joonhong, Chae, Hyojin, Kim, Myungshin, Kim, Yonggoo, Ok, In-Young
Publicado 2012

Diagnostic Characteristics of Urinary Red Blood Cell Distribution Incorporated in UF-5000 for Differentiation of Glomerular and Non-Glomerular Hematuria

por Cho, Hanwool, Yoo, Jaeeun, Kim, Hyunjung, Jang, Hyunsik, Kim, Yonggoo, Chae, Hyojin
Publicado 2022

Elevated Pleural Adenosine Deaminase Levels in IgG4-related Disease With Pleural Effusion: A Case Series

por Chae, Seungwan, Lee, JeongJoong, Cho, Hanwool, Chae, Hyojin, Oh, Eun-Jee
Publicado 2023

Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening

por Park, Joonhong, Jang, Woori, Chae, Hyojin, Kim, Yonggoo, Chi, Hyun Young, Kim, Myungshin
Publicado 2016

A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report

por HAN, JI YOON, PARK, JOONHONG, JANG, WOORI, CHAE, HYOJIN, KIM, MYUNGSHIN, KIM, YONGGOO
Publicado 2016

Budding Yeast Cells in Peripheral Blood Smear: Clue to Candidemia

por Cho, Sung-Yeon, Chae, Hyojin, Kim, Myungshin, Lee, Dong-Gun, Kim, Hee-Je
Publicado 2016

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations

por Park, Shin Hae, Ahn, Ye Jin, Chae, Hyojin, Kim, Yonggoo, Kim, Man Soo, Kim, Myungshin
Publicado 2015

Hemoglobin Kansas: First Korean Family and Literature Review

por Jo, Irene, Jang, Woori, Chae, Hyojin, Kim, So-Young, Kim, Myungshin, Kim, Yonggoo, Han, Kyungja
Publicado 2017

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

por Kim, Kyung Soo, Choi, Hang Jun, Jang, Woori, Chae, Hyojin, Kim, Myungshin, Moon, Seok Whan
Publicado 2017

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene

por Cho, Won Kyoung, Ahn, Moon-Bae, Jang, Woori, Chae, Hyojin, Kim, Myungshin, Suh, Byung-Kyu
Publicado 2018

Plasma Glial Fibrillary Acidic Protein and N-Terminal Pro B-Type Natriuretic Peptide: Potential Biomarkers to Differentiate Ischemic and Hemorrhagic Stroke

por Han, Eunhee, Kim, Hyejeong, Cho, Bongrae, Lee, Jeong-Joong, Shin, Soyoung, Oh, Eun-Jee, Chae, Hyojin
Publicado 2023

Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis

por Cho, Won Kyoung, Jung, In Ah, Kim, Jiyeon, Chae, Hyojin, Kim, Myungshin, Chung, Nack-Gyun, Suh, Byung-Kyu
Publicado 2015

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma

por Chae, Hyojin, Sung, Pil Soo, Choi, Hayoung, Kwon, Ahlm, Kang, Dain, Kim, Yonggoo, Kim, Myungshin, Yoon, Seung Kew
Publicado 2021

Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome

por Yoo, Jaeeun, Lee, Gun Dong, Kim, Jee Hae, Lee, Seung Nam, Chae, Hyojin, Han, Eunhee, Kim, Yonggoo, Kim, Myungshin
Publicado 2020

Indirect Method for Estimation of Reference Intervals of Inflammatory Markers

por Kang, Taewon, Yoo, Jeaeun, Jekarl, Dong Wook, Chae, Hyojin, Kim, Myungshin, Park, Yeon-Joon, Oh, Eun-Jee, Kim, Yonggoo
Publicado 2023

Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings

por Ko, Hyun Sun, Lee, Seungok, Chae, Hyojin, Choi, Sae Kyung, Kim, Myungshin, Park, In Yang, Suh, Byung Kyu, Shin, Jong Chul
Publicado 2011

Feasibility of a Microarray-Based Point-of-Care CYP2C19 Genotyping Test for Predicting Clopidogrel On-Treatment Platelet Reactivity

por Chae, Hyojin, Kim, Myungshin, Koh, Yoon-Seok, Hwang, Byung-Hee, Kang, Min-Kyu, Kim, Yonggoo, Park, Hae-il, Chang, Kiyuk
Publicado 2013

Impact of Genetic Abnormalities on the Prognoses and Clinical Parameters of Patients with Multiple Myeloma

por Jekarl, Dong Wook, Min, Chang-Ki, Kwon, Ahlm, Kim, Hyunjung, Chae, Hyojin, Kim, Myungshin, Lim, Jihyang, Kim, Yonggoo, Han, Kyungja
Publicado 2013