Lv514
840 积分 2026-01-07 加入
Alagille syndrome case series: five new variants and two large deletions
16天前
已完结
Genome-wide spectrum of coding DNA variations in Indian patients with amyotrophic lateral sclerosis
16天前
已完结
Comorbid autoimmune disease in stiff-person syndrome spectrum disorder: a systematic review and meta-analysis
16天前
已完结
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country
16天前
已完结
Advancing precision hepatology for rare paediatric liver diseases
16天前
已完结
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project
16天前
已完结
Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study
16天前
已完结
Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project
16天前
已完结
Familial Hypercholesterolemia
16天前
已完结
Rituximab versus Ocrelizumab in Newly Diagnosed Relapsing Multiple Sclerosis
16天前
已完结
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