Lv4
442 积分 2020-11-09 加入
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
19小时前
已完结
Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
1天前
已完结
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
3天前
已关闭
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency
3天前
已完结
Genetic Variants of the COL4A3, COL4A4, and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients
9天前
已完结
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population
9天前
已关闭
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
10天前
已关闭
Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients
10天前
已完结
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations
10天前
已关闭
X-linked Alport Syndrome
12天前
已完结
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