Lv33
216 积分 2023-10-26 加入
Plasma Non–cholesterol Sterols: A Useful Diagnostic Tool in Pediatric Hypercholesterolemia
4小时前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
5小时前
待确认
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory
5小时前
已完结
Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families
8小时前
已完结
Prenatal exome sequencing analysis in fetuses with central nervous system anomalies
1天前
已关闭
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism
1天前
已完结
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations
8天前
已关闭
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to <b><i>USH2A</i></b> Genetic Variants
8天前
已完结
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
8天前
已完结
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