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Showing results 1 to 8 of 8

Issue DateTitle / Author(s) / CitationFileAltmetrics
2017-07
Findings of a 1303 Korean whole-exome sequencing study
DOI
2019-10
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies

Kim, Soo Yeon; Jang, Se Song; Kim, Jong-Il; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Chae, Jong-Hee; Kim, Ki Joong; Lim, Byung Chan

Seizure : the journal of the British Epilepsy Association, Vol.71, pp.222-228

DOI
2019-12
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance
DOI
2020-07
A newly developed capture-based sequencing panel for genomic assay of lung cancer
DOI
2020-12
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
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2022-07
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
DOI
2022-09
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
DOI
2022-10
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
DOI
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