Lv11
10 积分 2026-07-15 加入
Characterization of glucose-6-phosphate dehydrogenase in Thailand. The occurrence of 6 variants among 50 G-6-PD deficient Thai
2小时前
求助中
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
21天前
已完结
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]
23天前
已完结
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
30天前
已完结
Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature
30天前
已完结
Prenatal exome sequencing analysis in fetuses with central nervous system anomalies
1个月前
已完结
Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging
1个月前
已完结
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
1个月前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
1个月前
已完结
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature
1个月前
已完结
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