Lv61
2520 积分 2024-01-24 加入
Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature
6小时前
已完结
Heterozygous variants in USP25 cause genetic generalized epilepsy
8个月前
已完结
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
10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
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
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
Elucidating the mutational impact in causing Niemann–Pick disease type C: an in silico approach
1年前
已完结
CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation
1年前
已完结
皖公网安备34019202002308
