Lv11
40 积分 2023-07-04 加入
Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation
3小时前
已完结
Genetic etiology and clinical features of achromatopsia in Japan
23天前
已完结
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency
2个月前
已完结
Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy
2个月前
已完结
Next generation sequencing in children with isolated congenital cataract
2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
3个月前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
3个月前
已完结
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
3个月前
已完结
A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency
3个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
3个月前
已完结
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