Lv11
40 积分 2023-07-04 加入
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord
31分钟前
待确认
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
25天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1个月前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
1个月前
已完结
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
2个月前
已完结
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
2个月前
已完结
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation
3个月前
已完结
Genetic etiology and clinical features of achromatopsia in Japan
4个月前
已完结
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency
5个月前
已完结
Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy
5个月前
已完结
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