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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H. Yang J, et al. Among authors: luo f. Mol Genet Genomic Med. 2018 Sep;6(5):739-748. doi: 10.1002/mgg3.428. Epub 2018 Jul 4. Mol Genet Genomic Med. 2018. PMID: 29974678 Free PMC article.
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B. Liu J, et al. Among authors: luo f. Mol Brain. 2018 Sep 5;11(1):48. doi: 10.1186/s13041-018-0392-5. Mol Brain. 2018. PMID: 30185235 Free PMC article.
Dexmedetomidine inhibited arrhythmia susceptibility to adrenergic stress in RyR2R2474S mice through regulating the coupling of membrane potential and intracellular calcium.
Li J, Luo F, Liu X, Ou X, Liu T, Huang Y, Liu W, Yang Y, Tan X, Zhou S, Chen T. Li J, et al. Among authors: luo f. Biochem Biophys Res Commun. 2024 May 11;720:150105. doi: 10.1016/j.bbrc.2024.150105. Online ahead of print. Biochem Biophys Res Commun. 2024. PMID: 38754163 Free article.
4,205 results