Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II

por Kim, Hwa Young, Kim, Man Jin, Seong, Moon-Woo, Ko, Jung Min
Publicado 2022

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families

por Son, Hyoshin, Yoon, Jihoon G., Kim, Man Jin, Moon, Jangsup, Kim, Han-Joon
Publicado 2023

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene

por Choe, Yunsoo, Shin, Choong Ho, Lee, Young Ah, Kim, Man Jin, Lee, Yun Jeong
Publicado 2022

A Case of AOA2 With Compound Heterozygous SETX Mutations

por Chang, Hee Jin, Kim, Ryul, Kim, Minchae, Moon, Jangsup, Kim, Man Jin, Kim, Han-Joon
Publicado 2022

Electrospray mode discrimination with current signal using deep convolutional neural network and class activation map

por Kim, Man Jin, Song, Jin Yeong, Hwang, Seok Hyeon, Park, Dong Yong, Park, Sang Min
Publicado 2022

Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

por Kim, Youngji, Yang, Ye Seul, Park, Sung Sup, Kim, Man Jin, Shin, Cheol Min, Choi, Sung Hee
Publicado 2019

Hereditary Fructose Intolerance Diagnosed in Adulthood

por Kim, Min Soo, Moon, Jin Soo, Kim, Man Jin, Seong, Moon-Woo, Park, Sung Sup, Ko, Jae Sung
Publicado 2021

Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome

por Lee, Heerah, Lee, Jung Ae, Lee, Hyesu, Lee, Jee-Soo, Ko, Jung Min, Kim, Man Jin, Seong, Moon-Woo
Publicado 2023

Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7

por Yoo, Dallah, Choi, Ji-Hyun, Im, Jin-Hee, Kim, Man Jin, Kim, Han-Joon, Park, Sung Sup, Jeon, Beomseok
Publicado 2020

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

por Gu, Hyunjung, Kim, Man Jin, Yang, Dahae, Song, Ji Yun, Cho, Sung Im, Park, Sung Sup, Seong, Moon-Woo
Publicado 2021

SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

por Kim, Young-Gon, Jung, Kiwook, Kim, Seunghwan, Kim, Man Jin, Lee, Jee-Soo, Park, Sung-Sup, Seong, Moon-Woo
Publicado 2022

Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS

por Kim, Seondeuk, Kim, Man Jin, Son, Hyoshin, Hwang, Sungeun, Kang, Mi‐Kyoung, Chu, Kon, Lee, Sang Kun, Moon, Jangsup
Publicado 2021

Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases

por Cho, Jaeso, Yoon, Jihoon G, Lee, Seungbok, Kim, Sheehyun, Kim, Soo Yeon, Kim, Man Jin, Moon, Jangsup, Chae, Jong-Hee
Publicado 2023

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

por Kim, Min Seok, Joo, Kwangsic, Seong, Moon-Woo, Kim, Man Jin, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon
Publicado 2019

Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

por Kim, Min Seok, Joo, Kwangsic, Seong, Moon-Woo, Kim, Man Jin, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon
Publicado 2019

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

por Heo, You Jung, Ko, Jung Min, Lee, Young Ah, Shin, Choong Ho, Yang, Sei Won, Kim, Man Jin, Park, Sung Sub
Publicado 2018

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

por Yoon, Jihoon G., Lee, Seungbok, Kim, Sheehyun, Kim, Man Jin, Chang, Yoon Hwan, Park, Jin Kyun, Shin, Dong-Yeop, Moon, Jangsup
Publicado 2023

The spectrum of imaging manifestations of Gorham–Stout disease: a novel dynamic contrast-enhanced MR lymphangiography

por Lee, Yuna, Lee, Seunghyun, Hur, Saebeom, Jeong, Yun Soo, Suh, Dong In, Moon, Jangsup, Kim, Man Jin, Choi, Young Hun, Cheon, Jung-Eun
Publicado 2023

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

por Kim, Boram, Kim, Man Jin, Hur, Keunyoung, Jo, Seong Jin, Ko, Jung Min, Park, Sung Sup, Seong, Moon-Woo, Mun, Je-Ho
Publicado 2021

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome

por Kim, Boram, Park, Yongsook, Cho, Sung Im, Kim, Man Jin, Chae, Jong-Hee, Kim, Ji Yeon, Seong, Moon-Woo, Park, Sung Sup
Publicado 2022