Lv2
110 积分 2025-02-24 加入
Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction
28天前
已完结
Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease
1个月前
已完结
Biocatalytic Clusterzyme Patches Restore Lung Function via Immunomodulation and Mitochondria Protection
5个月前
已完结
A Rare Lipoma of Tongue in a 4-Year-Old Child:A Case Report With Literature Review
5个月前
已完结
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia
9个月前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
9个月前
已完结
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
9个月前
已完结
Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
9个月前
已完结
Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
9个月前
已完结
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