Lv41
450 积分 2022-05-13 加入
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome
2天前
已完结
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations inABCC6
3天前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
23天前
已完结
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
1个月前
已完结
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
1个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
1个月前
已完结
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
1个月前
已完结
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
1个月前
已完结
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
1个月前
已完结
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation
2个月前
已关闭
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