Lv11
50 积分 2025-03-21 加入
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
5小时前
待确认
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
16天前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
28天前
已完结
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
2个月前
已完结
[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review]
3个月前
已完结
Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias
4个月前
已完结
Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms
4个月前
已完结
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis
4个月前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
5个月前
已完结
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
5个月前
已完结
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