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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3.
An oncogenic KRAS2 expression signature identified by cross-species gene-expression analysis.
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis.
Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1.
EWS/FLI1-induced manic fringe renders NIH 3T3 cells tumorigenic.
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
Left, right ... which way to turn?
Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND.