Lv3
270 积分 2025-04-17 加入
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
23小时前
已完结
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations
6天前
已完结
Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant
7天前
已完结
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS
9天前
已完结
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia
11天前
已完结
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia
13天前
已完结
Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations
13天前
已完结
Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome
1个月前
已完结
The distinct manifestation of young-onset amyotrophic lateral sclerosis in China
1个月前
已完结
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly
1个月前
已完结
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