Lv3
296 积分 2024-08-22 加入
Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability To Cause Aortopathy
10天前
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Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service
1个月前
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Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction
1个月前
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Tools and tactics for studying alternative splicing
1个月前
已完结
Genetic variants affecting RNA stability influence complex traits and disease risk
3个月前
已完结
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I
3个月前
已完结
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome
3个月前
已完结
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
3个月前
已完结
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
3个月前
已完结
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
3个月前
已完结
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