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60 积分 2024-08-06 加入
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families
1个月前
已完结
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
1个月前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
1个月前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
2个月前
已完结
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome
2个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
3个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
3个月前
已完结
A base substitution (T→C) in codon 29 of the α2-globin gene causes α thalassaemia
4个月前
已完结
The analysis of the breakpoint of large rearrangements of LDLR gene in a Taiwanese cohort of patients with familial hypercholesterolemia
4个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
4个月前
已完结
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