Lv1
50 积分 2025-05-22 加入
Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5
13小时前
待确认
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
3个月前
已完结
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
3个月前
已完结
HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
3个月前
已完结
Fever Triggered Recurrent Acute Liver Failure due to RINT1 Deficiency
3个月前
已完结
Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction
3个月前
已完结
[Expert consensus on the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)]
4个月前
已完结
Congenital difference of the hand and foot: Pediatric macrodactyly
4个月前
已完结
Machine learning for functional protein design
4个月前
已完结
The synergy of artificial intelligence and personalized medicine for the enhanced diagnosis, treatment, and prevention of disease
4个月前
已完结
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