Extranasal natural killer/T-cell lymphoma initially presenting as myelofibrosis

por Jang, Woori, Kim, Myungshin
Publicado 2016

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family

por Park, Joonhong, Jang, Woori, Han, Ji Yoon
Publicado 2019

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

por Han, Ji Yoon, Jang, Woori, Park, Joonhong
Publicado 2022

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

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23

por Kim, Su Jin, Park, Dasom, Jang, Woori, Lee, Juyoung
Publicado 2021

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

por Park, Hae-Yeon, Kim, Myungshin, Jang, Woori, Jang, Dae-Hyun
Publicado 2017

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

por Choi, Asayeon, Oh, Ja-Young, Kim, Myungshin, Jang, Woori, Jang, Dae-Hyun
Publicado 2017

T618I-Mutated Colony Stimulating Factor 3 Receptor in Chronic Neutrophilic Leukemia and Chronic Myelomonocytic Leukemia Patients who Underwent Allogeneic Stem Cell Transplantation

por Lee, Sung-Eun, Jo, Irene, Jang, Woori, Kim, Yonggoo, Han, Kyungja, Kim, Myungshin
Publicado 2015

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

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

Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family

por Shin, Soyoung, Jang, Woori, Kim, Myungshin, Kim, Yonggoo, Park, Suk Young, Park, Joonhong, Yang, Young Jun
Publicado 2018

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development

por Park, Kee-Boem, Nam, Kyung Eun, Cho, Ah-Ra, Jang, Woori, Kim, Myungshin, Park, Joo Hyun
Publicado 2019

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

por Kim, Kyung Hwa, Kim, Tae Yun, Kim, Soon Jin, Cho, Yong Gon, Park, Joonhong, Jang, Woori
Publicado 2022

Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer

por Park, Joonhong, Yoo, Han Mo, Jang, Woori, Shin, Soyoung, Kim, Myungshin, Kim, Yonggoo, Lee, Seung-Woo, Kim, Jeong Goo
Publicado 2017

Cytokine clusters as potential diagnostic markers of disease activity and renal involvement in systemic lupus erythematosus

por Park, Joonhong, Jang, Woori, Park, Hye Sun, Park, Ki Hyun, Kwok, Seung-Ki, Park, Sung-Hwan, Oh, Eun-Jee
Publicado 2020

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis

por Kim, Myungshin, Yoo, Jaeeun, Kim, Jiyeon, Park, Joonhong, Han, Eunhee, Jang, Woori, Chae, Hyojin, Lee, Ji Hyun, Park, Young Min, Kim, Yonggoo
Publicado 2017

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

por Jang, Woori, Chae, Hyojin, Kim, Jiyeon, Son, Jung-Ok, Kim, Seok Chan, Koo, Bo Kyung, Kim, Myungshin, Kim, Yonggoo, Park, In Yang, Sung, In Kyung
Publicado 2016