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Recent Publications
Oct 221 min read
Leveraging curated genetic studies to estimate rare neurodevelopment diseases
The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era. Mueller...
40
Oct 221 min read
Uncovering potentially overlooked patients in retinitis pigmentosa
Prevalence Estimates and Genetic Diversity for Autosomal Dominant Retinitis Pigmentosa Due to RHO , c.68C>A (p.P23H) Variant Leenders et...
20
Oct 221 min read
RCDP
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata...
20
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