Lv2
106 积分 2023-10-12 加入
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
6天前
已完结
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
6天前
已完结
Inhibition of γ-secretase activity by a monoclonal antibody against the extracellular hydrophilic loop of presenilin 1
9天前
已完结
Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study
9天前
已完结
Clinical impact of whole-genome sequencing in patients with early-onset dementia
10天前
已完结
A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype
11天前
已完结
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with a CDKL5 gene mutation
12天前
已关闭
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
19天前
已完结
Novel insights into the genetic profile of hereditary spastic paraplegia in India
27天前
已完结
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations
27天前
已完结
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