Lv1
20 积分 2023-11-30 加入
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis
16小时前
已完结
Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy
1天前
已完结
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
1天前
已完结
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients
5天前
已完结
5’UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin
6天前
已完结
The results of ATP7B gene screening in 38,158 neonates and the clinical and variants characteristics of 14 cases with Wilson’s disease
8天前
已完结
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy
9天前
已完结
Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
9天前
已完结
皖公网安备34019202002308
