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128 积分 2024-04-22 加入
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
3小时前
待确认
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
3小时前
已完结
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]
22天前
已完结
[Orodental phenotype and genotype findings in 8 Chinese children with hypophosphatasia]
1个月前
已完结
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease
1个月前
已完结
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
1个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
1个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
1个月前
已完结
[A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review]
2个月前
已完结
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