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Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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The East Flanders Prospective Twin Survey (EFPTS)