Lv23
110 积分 2024-04-22 加入
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism
1小时前
待确认
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
3小时前
已完结
Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder
1天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
2天前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome
2天前
已完结
Primary antibody deficiencies in Turkey: molecular and clinical aspects
11天前
已完结
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
1个月前
已完结
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease
1个月前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
1个月前
已完结
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