Lv1
78 积分 2024-11-25 加入
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Thorough evaluation of a novel splice variant in a female patient with MED12-related intellectual disability
1个月前
已完结
Zincore, an atypical coregulator, binds zinc finger transcription factors to control gene expression
1个月前
已完结
Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses
1个月前
已完结
A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A
1个月前
已完结
[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene]
1个月前
已完结
A Novel Missense Substitution in NSUN2 and a Stop Codon in ASPM Causes Neurological Disorders in Pakistani Families
1个月前
已关闭
Structure-driven RNA remodeling underlies broad substrate recognition by NSUN2
1个月前
已完结
The spectrum of SCN1A-related infantile epileptic encephalopathies
2个月前
已完结
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
2个月前
已完结
A 5.3 Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay
2个月前
已完结
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