Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

Por Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise
Publicado no BMC Med Genet (2015)

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Por Gudmundsson, Sanna, Wilbe, Maria, Ekvall, Sara, Ameur, Adam, Cahill, Nicola, Alexandrov, Ludmil B., Virtanen, Marie, Hellström Pigg, Maritta, Vahlquist, Anders, Törmä, Hans, Bondeson, Marie-Louise
Publicado no Hum Mol Genet (2017)