Lv2
150 积分 2025-07-31 加入
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
1个月前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
1个月前
已完结
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
1个月前
已关闭
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
1个月前
已完结
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
1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
2个月前
已完结
Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome
2个月前
已完结
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