Lv3
334 积分 2026-01-13 加入
Possible adult-onset hypophosphatasia variant presenting as young-onset parkinsonism with limited levodopa responsiveness
1个月前
已关闭
Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
1个月前
已完结
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
1个月前
已完结
Near-perfect genome sequencing in medical genetics
2个月前
已完结
Long-read sequencing reveals novel genetic polymorphisms in the major histocompatibility complex region and their impacts on the Han Chinese population
2个月前
已完结
Polymorphic CGG repeats in gene regulation and disease
2个月前
已完结
Spinocerebellar ataxia type 31 (SCA31)
2个月前
已完结
Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis
2个月前
已完结
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations
2个月前
已完结
Deep brain stimulation for Myoclonus in sialidosis I
4个月前
已完结
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