Lv1
40 积分 2023-01-10 加入
β-Galactosidase Gene Mutations in Patients With Slowly Progressive GM1 Gangliosidosis
4天前
已完结
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
5天前
已完结
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])
22天前
已完结
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
1个月前
已完结
Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype
1个月前
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
2个月前
已完结
Abstracts of the 18 th UK Neuromuscular Translational Research Conference15 th and 16 th April 2025
3个月前
已完结
Photobiomodulation Therapy for Non-exudative Age-related Macular Degeneration
3个月前
已完结
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
3个月前
已完结
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