Lv3
310 积分 2025-05-13 加入
Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma
1个月前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
2个月前
已完结
[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome]
2个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
2个月前
已完结
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]
2个月前
已完结
[The molecular genetic and clinical findings in two probands with Stargardt disease]
2个月前
已关闭
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population
2个月前
已完结
The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease
3个月前
已完结
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
3个月前
已完结
Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
3个月前
已完结
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