Lv3
324 积分 2023-01-05 加入
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
4天前
求助中
Variability of retinopathy consequent upon novel mutations in LAMA1
4天前
已完结
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
9天前
已关闭
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry
9天前
已完结
Genetic diagnosis of familial hypercholesterolemia in Han Chinese
9天前
已完结
Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls
11天前
已完结
Whole‐genome sequencing analysis in fetal structural anomalies: novel phenotype–genotype discoveries
11天前
已完结
Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis
11天前
已完结
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
11天前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
14天前
已完结
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