Lv1
30 积分 2024-10-28 加入
Fetal micrognathia in the first trimester: An ominous finding even after a normal array
3天前
已完结
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
14天前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
1个月前
已完结
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes
1个月前
已完结
Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
3个月前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
7个月前
已完结
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
8个月前
已完结
Analysis of phenotype and genotype of a family with hereditary coagulation factor V deficiency caused by the compound heterozygous mutations
8个月前
已完结
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations
8个月前
已完结
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
8个月前
已完结
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