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10 积分 2024-02-23 加入
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options
3小时前
待确认
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options
3小时前
待确认
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
3小时前
已完结
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
12天前
已关闭
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
15天前
已完结
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
15天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
18天前
已完结
[The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy]
19天前
已完结
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study
26天前
已关闭
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
26天前
已完结
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