Lv23
200 积分 2023-12-27 加入
SNCA-Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy
1天前
待确认
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
2个月前
已完结
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis
2个月前
已完结
Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
3个月前
已完结
Monogenic hypertension-a type of “curable” hypertension
3个月前
已完结
Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
3个月前
已完结
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