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70 积分 2025-07-13 加入
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
10天前
已完结
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
11天前
已完结
The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death
28天前
已关闭
Amino Acid Difference Formula to Help Explain Protein Evolution
1个月前
已完结
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
1个月前
已完结
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
4个月前
已关闭
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
6个月前
已完结
Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease
8个月前
已完结
Identification of Hereditary Hemorrhagic Telangiectasia Type 1 in Newborns by Protein Expression and Mutation Analysis of Endoglin
8个月前
已完结
Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians
8个月前
已完结
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