Lv52
1100 积分 2022-10-31 加入
Fishing for genes : a disease transgressing approach to unravel the genetic basis of thoracic aortic aneurysm
5天前
已关闭
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
13天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
14天前
已完结
Characteristics and Prognosis of Patients With Non-Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
18天前
已完结
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
19天前
已完结
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
28天前
已完结
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy
1个月前
已完结
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
1个月前
已完结
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy
1个月前
已完结
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