Suchergebnisse - "Seong, Moon-Woo"

PubPharm (339)

51

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

enthalten in: Annals of laboratory medicine | 2022

von Lee, Y. | Park, H. | Kang, H. | +8

52

Epidemiologic Trends of Thalassemia, 2006-2018 : A Nationwide Population-Based Study

enthalten in: Journal of clinical medicine | 2022

von Lee, J. | Rhee, T. | Jeon, K. | +6

53

Consistent count region-copy number variation (CCR-CNV) : an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Kim, M. | Lee, S. | Yun, H. | +7

54

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

enthalten in: Orphanet journal of rare diseases | 2022

von Yang, D. | Cho, S. | Cho, S. | +3

55

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

enthalten in: Orphanet journal of rare diseases | 2022

von Yang, D. | Cho, S. | Cho, S. | +3

56

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

enthalten in: Orphanet journal of rare diseases | 2022

von Yang, D. | Cho, S. | Cho, S. | +3

57

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

enthalten in: Annals of laboratory medicine | 2022

von Kim, Y. | Jung, K. | Kim, S. | +4

58

Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population

enthalten in: Journal of human genetics | 2022

von Kim, Y. | Sung, H. | Shin, H. | +4

59

Clinical Staging and Genetic Profiling of Korean Patients with Primary Lymphedema Using Whole-Exome Sequencing: Preliminary Results

enthalten in: ResearchSquare.com | 2022

von Seo, S. | Lee, S. | Park, J. | +7

60

ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis

enthalten in: Journal of neurogastroenterology and motility | 2022

von Hahn, J. | Moon, S. | Kim, M. | +8