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Year | Number of Results |
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2021 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders.
QJM. 2023 May 27;116(5):355-364. doi: 10.1093/qjmed/hcad005.
QJM. 2023.
PMID: 36625521
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Chen X, Yin W, Chen S, Zhang W, Li H, Kuang H, Zhou M, Teng Y, Zhang J, Shen G, Liang D, Li Z, Hu B, Wu L.
Chen X, et al.
Hum Genet. 2021 May;140(5):791-803. doi: 10.1007/s00439-020-02243-2. Epub 2021 Jan 4.
Hum Genet. 2021.
PMID: 33392778
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Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression.
Zhou M, Tang S, Duan N, Xie M, Li Z, Feng M, Wu L, Hu Z, Liang D.
Zhou M, et al.
Int J Mol Sci. 2022 Jul 19;23(14):7941. doi: 10.3390/ijms23147941.
Int J Mol Sci. 2022.
PMID: 35887289
Free PMC article.
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