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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutatio...
International audience -
Study of the relationship genotype/phenotype in retinoblastoma
Retinoblastoma is the most common intraocular childhood cancer and occurs when both alleles of the RB1 gene are inactivated in the retina. In patients without genetic... -
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.
International audience
