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Genetic Screening of Patients with Sporadic Alzheimer’s Disease and Frontotemporal Lobar Degeneration in the Chinese Population
12小时前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
3个月前
已完结
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
4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
4个月前
已完结
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations
4个月前
已完结
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
5个月前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
7个月前
已完结
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
7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
7个月前
已完结
Genotype–phenotype correlation study of structural abnormalities in a fetal brain caused by a novel KDM4B variant
7个月前
已完结
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