Lv3
350 积分 2024-05-27 加入
Splicing Alterations Associated with Multiple Homozygous TNXB Variants in a Patient with Suspected Classical-Like Ehlers-Danlos Syndrome
1个月前
已完结
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome
2个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2个月前
已完结
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families
3个月前
已完结
Dominant pretibial dystrophic epidermolysis bullosa in an Italian family
3个月前
已完结
Next‐generation sequencing identified a novel mutation of COL7A1 in a Chinese pedigree of dystrophic epidermolysis bullosa
3个月前
已完结
Genetic screening of EIF2B genes reveals mutation spectrum and predicted prevalence of vanishing white matter disease in Chinese population
3个月前
已关闭
Emerging biomarkers in IgA nephropathy, membranous nephropathy, and lupus nephritis
3个月前
已关闭
Laboratory testing for anti-synthetase antibodies: a novel algorithm to improve diagnostic accuracy
3个月前
已关闭
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?
3个月前
已完结
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