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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
1个月前
已完结
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series
1个月前
已完结
A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations
1个月前
已完结
Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort
1个月前
已完结
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project
1个月前
已完结
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
1个月前
已完结
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