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4 Einträge gefunden

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
2021 - Forschungsinformationssystem des UKE
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
2018 - Forschungsinformationssystem des UKE
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 - Forschungsinformationssystem des UKE
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
2013 - Forschungsinformationssystem des UKE