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Clinical Note
Neurology
Expanding association between
BICD2
variants and brain malformations and associated lissencephaly
Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae
Clin Exp Pediatr.
2024;67(1):54-56. Published online December 21, 2023
DOI:
https://doi.org/10.3345/cep.2023.01095
Full text
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Genetics and Metabolism
Biallelic
POLR3A
variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim
Clin Exp Pediatr.
2023;66(3):142-144. Published online December 30, 2022
Web of Science 1
Crossref 1
DOI:
https://doi.org/10.3345/cep.2022.01144
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1
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Impact Factor
3.2
8.0
2023
CiteScore
94th percentile
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