Lv1
40 积分 2023-01-10 加入
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])
6天前
已完结
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
15天前
已完结
Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype
15天前
已完结
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders
1个月前
已完结
Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants
1个月前
已完结
Abstracts of the 18 th UK Neuromuscular Translational Research Conference15 th and 16 th April 2025
2个月前
已完结
Photobiomodulation Therapy for Non-exudative Age-related Macular Degeneration
2个月前
已完结
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
2个月前
已完结
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
2个月前
已完结
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
2个月前
已完结
皖公网安备34019202002308
