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

od Kim, Youngji, Yang, Ye Seul, Park, Sung Sup, Kim, Man Jin, Shin, Cheol Min, Choi, Sung Hee
Wydane w Yonsei Med J (2019)

Hereditary Fructose Intolerance Diagnosed in Adulthood

od Kim, Min Soo, Moon, Jin Soo, Kim, Man Jin, Seong, Moon-Woo, Park, Sung Sup, Ko, Jae Sung
Wydane w Gut Liver (2021)

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

od Yoo, Dallah, Choi, Ji-Hyun, Im, Jin-Hee, Kim, Man Jin, Kim, Han-Joon, Park, Sung Sup, Jeon, Beomseok
Wydane w J Mov Disord (2020)

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

od Gu, Hyunjung, Kim, Man Jin, Yang, Dahae, Song, Ji Yun, Cho, Sung Im, Park, Sung Sup, Seong, Moon-Woo
Wydane w Ann Lab Med (2021)

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

od Kim, Min Seok, Joo, Kwangsic, Seong, Moon-Woo, Kim, Man Jin, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon
Wydane w J Korean Med Sci (2019)

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

od Kim, Min Seok, Joo, Kwangsic, Seong, Moon-Woo, Kim, Man Jin, Park, Kyu Hyung, Park, Sung Sup, Woo, Se Joon
Wydane w J Korean Med Sci (2019)

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

od Heo, You Jung, Ko, Jung Min, Lee, Young Ah, Shin, Choong Ho, Yang, Sei Won, Kim, Man Jin, Park, Sung Sub
Wydane w Ann Pediatr Endocrinol Metab (2018)

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

od Kim, Boram, Kim, Man Jin, Hur, Keunyoung, Jo, Seong Jin, Ko, Jung Min, Park, Sung Sup, Seong, Moon-Woo, Mun, Je-Ho
Wydane w Sci Rep (2021)

Therapeutic Plasmapheresis Enabling Radioactive Iodine Treatment in a Patient with Thyrotoxicosis

od Min, Se Hee, Phung, Anita, Oh, Tae Jung, Han, Kyou-Sup, Kim, Man Jin, Kim, Jee Min, Lee, Ji hyun, Park, Young Joo
Wydane w J Korean Med Sci (2015)

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

od Park, Ji Hong, Ko, Jung Min, Kim, Min Sun, Kim, Man Jin, Seong, Moon‐Woo, Yoo, Taekyeong, Lim, Byung Chan, Chae, Jong‐Hee
Wydane w Mol Genet Genomic Med (2021)

Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea

od Yang, Dahae, Kim, Boram, Song, Da Young, Kim, Tae Yeul, Kim, Man Jin, Cho, Sung Im, Kim, Hyungsuk, Seong, Moon-Woo, Park, Sung Sup
Wydane w Ann Lab Med (2019)

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases

od Lee, Jee-Soo, Lee, Kyung Bok, Song, Han, Sun, ChoongHyun, Kim, Man Jin, Cho, Sung Im, Lee, Young Kyung, Park, Sung Sup, Seong, Moon-Woo
Wydane w Eur J Hum Genet (2020)

Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in...

od Lee, Jee-Soo, Ahn, Ji Soo, Yu, Byeong Su, Cho, Sung Im, Kim, Man Jin, Choi, Jong Moon, Seo, Soo Hyun, Park, Sung Sup, Seong, Moon-Woo
Wydane w J Clin Microbiol (2017)

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

od Seo, Soo Hyun, Kim, Jung Hee, Kim, Man Jin, Cho, Sung Im, Kim, Su Jin, Kang, Hyein, Shin, Chan Soo, Park, Sung Sup, Lee, Kyu Eun, Seong, Moon-Woo
Wydane w Endocrinol Metab (Seoul) (2020)

Determination of Clinical Characteristics of Mycobacterium kansasii-Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii

od Kim, Young-gon, Lee, Hong Yeul, Kwak, Nakwon, Park, Jae Hyeon, Kim, Taek Soo, Kim, Man Jin, Lee, Jee-Soo, Park, Sung-Sup, Yim, Jae-Joon, Seong, Moon-Woo
Wydane w Ann Lab Med (2021)

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

od Park, Hyun Jin, Shin, Chang Ho, Yoo, Won Joon, Cho, Tae-Joon, Kim, Man Jin, Seong, Moon-Woo, Park, Sung Sup, Lee, Jeong Ho, Sim, Nam Suk, Ko, Jung Min
Wydane w Orphanet J Rare Dis (2020)

2D transition metal dichalcogenides with glucan multivalency for antibody-free pathogen recognition

od Kang, Tae Woog, Han, Juhee, Lee, Sin, Hwang, In-Jun, Jeon, Su-Ji, Ju, Jong-Min, Kim, Man-Jin, Yang, Jin-Kyoung, Jun, Byoengsun, Lee, Chi Ho, Lee, Sang Uck, Kim, Jong-Ho
Wydane w Nat Commun (2018)

Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

od Lee, Jee-Soo, Lee, Ji-Hyun, Lee, Kyu Eun, Kim, Jung Hee, Hong, Joon Mo, Ra, Eun Kyung, Seo, Soo Hyun, Lee, Seung Jun, Kim, Man Jin, Park, Sung Sup, Seong, Moon-Woo
Wydane w BMC Med Genet (2016)

Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia

od Han, Heejoo, Byun, Ja Min, Shin, Dong-Yeop, Yoon, Sung-Soo, Koh, Youngil, Hong, Junshik, Kim, Inho, Lee, Chansup, Yoo, Hyeonjoo, Yun, Hongseok, Kim, Man Jin, Cho, Sung Im, Seong, Moon-Woo, Park, Sung Sup
Wydane w Korean J Intern Med (2021)

Replication-based rearrangements are a major mechanism for SNCA duplication in Parkinson disease

od Seo, Soo Hyun, Bacolla, Albino, Yoo, Dallah, Koo, Yoon Jung, Cho, Sung Im, Kim, Man Jin, Seong, Moon-Woo, Kim, Han-Joon, Kim, Jong-Min, Tainer, John A., Park, Sung Sup, Kim, Ji Yeon, Jeon, Beomseok.
Wydane w Mov Disord (2020)