Lv7
4210 积分 2020-12-07 加入
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
29分钟前
已完结
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
13天前
已完结
Exploring neurodevelopment in CDKL5 deficiency disorder: Current insights and future directions
17天前
已完结
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
1个月前
已完结
Pervasive mislocalization of pathogenic coding variants underlying human disorders
1个月前
已完结
Nuclear receptor corepressors in intellectual disability and autism
1个月前
已完结
Genotypes and phenotypes ofDNM1encephalopathy
1个月前
已完结
Genotypes and phenotypes ofDNM1encephalopathy
2个月前
已完结
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
2个月前
已完结
Mutations in WNT9B are associated with Mayer–Rokitansky–Küster–Hauser syndrome
3个月前
已完结
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