Lv1
60 积分 2022-10-11 加入
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation
10小时前
求助中
Correlation of Ventricular Arrhythmias With Genotype in Arrhythmogenic Right Ventricular Cardiomyopathy
19天前
已完结
Identification of Alu-mediated, large deletion-spanning introns 19–26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)
20天前
已完结
Monozygotic twins with identical premature timing of acne onset: A Case report
1个月前
已完结
Novel WFS1 mutations in patients with low-to-middle frequency hearing loss
2个月前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
2个月前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
2个月前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
2个月前
已关闭
Germinal defects of SDHx genes in patients with isolated pituitary adenoma
3个月前
已完结
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics
3个月前
已完结
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