발행물

전체 논문

54

1

Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010-2011
임한혁, 이인경, 김유미
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 202405

2

Efficacy and safety of topical corticosteroid treatment under occlusion for severe alopecia areata in children: a single-centre retrospective analysis
김유미, 임한혁, 이태관, 이영, 손승진, 홍동균, 정경은, 서영준, 진소영, 신정민, 이영윤
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 202403

3

Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age
임한혁, 김은희, 김지나, 김민지, 소혜진, 이병국, 권유원, 민지수, 이영석, 김유미
JOURNAL OF CLINICAL MEDICINE, 202310

4

Evaluation of users` level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases
김유미, 최인희, 서고훈, 박정윤, 김윤명, 전종근, 오아름, 변정혜, 강은구, 신영림, 이지은, 김수진, 유희준, 김우진, 최병윤, 김봉직, 김용호, 임기정, 이효정, 김현지, 한세희, 이범희, 은백린, 유희준
MEDICINE, 202207

5

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease
김유미, 김은나, 도효상, 정황교, 김태호, 허선희, 전종근, 이예나, 최인희, 최정민, 유한욱, 김정재, Ari Zimran, 김경곤, 이범희, 최윤하
CLINICAL AND TRANSLATIONAL MEDICINE, 202205

6

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
김유미, 서고훈, 이해인, 이정술, 한헌정, 조유경, 김민지, 최윤하, 최정민, 최인희, 류선경, 채규영, 전종근, 김수진, 이지은, 강은구, 변정혜, 유희준, 신영림, 오아름, 김우진, 염미선, 이범희, 은백린
MOLECULAR MEDICINE, 202203

7

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
김유미, 이예나, 이범희, 최윤하, 김구환, 금창원, 도효상, 최정민, 최인희, 서고훈, 유한욱
BMC MEDICAL GENOMICS, 202110

8

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
김유미, 유한욱, 최진호, 이범희, 김구환, 허선희, 고정민, 손영배, 전종근, 임한혁
ORPHANET JOURNAL OF RARE DISEASES, 202011

9

Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing
김유미, 양유진, 임영탁, 전종근, 박경미, 정기선
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 202004

10

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
김유미, 김구환, 최진호, 이범희, 김경모, 유한욱
ORPHANET JOURNAL OF RARE DISEASES, 202002