Lv4
492 积分 2025-04-29 加入
Genetic and clinical characterization of familial renal glucosuria
13小时前
待确认
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
2天前
已完结
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome
2天前
已完结
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study
11天前
已关闭
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
16天前
已完结
Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency
20天前
已完结
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
20天前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
28天前
已完结
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
1个月前
已完结
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
1个月前
已完结
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