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qi liang guo[Author]
(1 results)?
Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.
Transl Pediatr. 2021 Oct;10(10):2552-2562. doi: 10.21037/tp-21-403.
Transl Pediatr. 2021.
PMID: 34765479
Free PMC article.
[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].
Li X, Jia T, Zhang X, Gan L, Guo Q, Li X.
Li X, et al. Among authors: guo q.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):108-111. doi: 10.3760/cma.j.cn511374-20200216-00083.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021.
PMID: 33565059
Chinese.
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Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.
Zhao S, Lian R, Jin L, Li M, Jia T, Xu F, Du K, Wang L, Guo Q, Dong Y.
Zhao S, et al. Among authors: guo q.
Epilepsia Open. 2024 Feb;9(1):250-257. doi: 10.1002/epi4.12862. Epub 2023 Dec 8.
Epilepsia Open. 2024.
PMID: 38009286
Free PMC article.
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