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Our goal: to better understand genetic diseases to better treat them.
Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Anatomical and functional abnormalities on MRI in kabuki syndrome.
J. Med. Genet.
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic fe...