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0 积分 2025-04-17 加入
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
2小时前
待确认
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein
2小时前
已完结
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency
6天前
已完结
Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort
11天前
已完结
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
19天前
已完结
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
19天前
已完结
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients
22天前
已完结
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing
22天前
已完结
Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients
22天前
已完结
Next-generation sequencing of prolidase gene identifies novel and common variants associated with low prolidase in coronary artery ectasia
27天前
已完结
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