Lv3
320 积分 2023-04-14 加入
Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3’-UTR change as a possible cause-
1个月前
已完结
A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree
2个月前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
3个月前
已完结
ECHS1 deficiency and its biochemical and clinical phenotype
3个月前
已关闭
[Anaemia caused by a congenital haemoglobin defect can also occur in native Dutch patients]
3个月前
已关闭
TNFRSF11A variants contribute to systemic autoinflammatory diseases: a case series of 12 patients
3个月前
已完结
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
3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
3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
4个月前
已完结
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry
4个月前
已完结
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