Lv31
320 积分 2023-04-14 加入
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
5小时前
已完结
Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3’-UTR change as a possible cause-
6个月前
已完结
A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree
8个月前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
8个月前
已完结
ECHS1 deficiency and its biochemical and clinical phenotype
8个月前
已关闭
[Anaemia caused by a congenital haemoglobin defect can also occur in native Dutch patients]
8个月前
已关闭
TNFRSF11A variants contribute to systemic autoinflammatory diseases: a case series of 12 patients
8个月前
已完结
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
9个月前
已完结
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy
9个月前
已完结
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
9个月前
已完结
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