Lv42
750 积分 2026-01-20 加入
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1天前
待确认
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS
16天前
已完结
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
16天前
已完结
Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients
27天前
已完结
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
28天前
已完结
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
28天前
已完结
Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
29天前
已完结
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria
1个月前
已完结
Resolving misalignment interference for NGS-based clinical diagnostics
1个月前
已完结
A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria
2个月前
已完结
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