Lv6
2500 积分 2024-01-24 加入
Protective effect of CACNA1A deficiency in oligogenic refractory epilepsy with CACNA1A‐CELSR2 digenic mutations
5小时前
已完结
Phosphorylation-dependent charge blocks regulate the relaxation of nuclear speckle networks
28天前
已完结
TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases
1个月前
已完结
TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions
1个月前
已完结
Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature
1个月前
已完结
Heterozygous variants in USP25 cause genetic generalized epilepsy
9个月前
已完结
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
11个月前
已完结
Multiple Roles of the SR Protein Family in Splicing Regulation
1年前
已完结
Metabolic regulation of mRNA splicing
1年前
已完结
Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group
1年前
已完结
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