Oct 221 min readLeveraging curated genetic studies to estimate rare neurodevelopment diseasesThe emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era.Mueller et al.Pre-print available, currently under reviewhttps://www.researchsquare.com/article/rs-4949811/v1
The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era.Mueller et al.Pre-print available, currently under reviewhttps://www.researchsquare.com/article/rs-4949811/v1
Uncovering potentially overlooked patients in retinitis pigmentosaPrevalence Estimates and Genetic Diversity for Autosomal Dominant Retinitis Pigmentosa Due to RHO , c.68C>A (p.P23H) Variant Leenders et...
RCDPGenetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata...
Comments