Lv11
40 积分 2023-07-04 加入
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
3小时前
已完结
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
17天前
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
29天前
已完结
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation
1个月前
已完结
Genetic etiology and clinical features of achromatopsia in Japan
2个月前
已完结
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency
3个月前
已完结
Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy
4个月前
已完结
Next generation sequencing in children with isolated congenital cataract
4个月前
已完结
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
4个月前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
4个月前
已完结
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