Lv2
190 积分 2025-07-31 加入
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
1天前
已完结
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
2个月前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
2个月前
已完结
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
2个月前
已关闭
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
2个月前
已完结
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
2个月前
已完结
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
2个月前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
2个月前
已完结
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants
3个月前
已完结
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