Lv11
10 积分 2024-10-28 加入
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes
7小时前
已完结
Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
1个月前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
5个月前
已完结
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
6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
6个月前
已完结
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations
6个月前
已完结
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
6个月前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
8个月前
已完结
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
9个月前
已完结
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
9个月前
已完结
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