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Pathology|April 9, 2024
Combining TP53 mutation and isoform has the potential to improve clinical practiceSankalita Ray Das, Brett Delahunt, Annette Lasham, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
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