Lv1
40 积分 2024-08-17 加入
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1个月前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1个月前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
1个月前
已完结
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
1个月前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
1个月前
已完结
Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6
1个月前
已完结
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
1个月前
已完结
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
1个月前
已完结
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