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0 积分 2026-03-11 加入
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
18小时前
待确认
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
18小时前
已完结
[Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease]
26天前
已完结
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities
26天前
已完结
Immunoglobulin Isotype Switching Is Inhibited and Somatic Hypermutation Perturbed in UNG-Deficient Mice
28天前
已完结
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia
28天前
已完结
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
1个月前
已完结
Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder
1个月前
已完结
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
1个月前
已完结
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
1个月前
已完结
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