Lv71
4260 积分 2020-12-07 加入
Nuclear receptor corepressors in intellectual disability and autism
2小时前
已完结
Genotypes and phenotypes ofDNM1encephalopathy
6天前
已完结
Genotypes and phenotypes ofDNM1encephalopathy
21天前
已完结
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
1个月前
已完结
Mutations in WNT9B are associated with Mayer–Rokitansky–Küster–Hauser syndrome
1个月前
已完结
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
2个月前
已完结
Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants
2个月前
已关闭
The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome
3个月前
已关闭
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
3个月前
已完结
Clinical Aspects of Glucose Transporter Type 1 Deficiency
3个月前
已完结
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