Lv4
480 积分 2023-06-06 加入
Somatic ARAF mutations in pediatric Langerhans cell histiocytosis: clinicopathologic, genetic and functional profiling
5天前
已完结
Neuronal FAM171A2 mediates α-synuclein fibril uptake and drives Parkinson’s disease
6天前
已完结
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
19天前
已完结
Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities
19天前
已完结
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
19天前
已完结
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
19天前
已关闭
Blood-based biomarkers for Alzheimer's disease: towards clinical implementation
20天前
已完结
APOE genotype determines cell-type-specific pathological landscape of Alzheimer’s disease
22天前
已完结
A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy
23天前
已完结
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
1个月前
已完结
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