Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II

by Kaissi, Ali Al, Kraschl, Raimund, Kaulfersch, Wilhelm, Grill, Franz, Ganger, Rudolf
Published 2015

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

by Kurath-Koller, Stefan, Resch, Bernhard, Kraschl, Raimund, Windpassinger, Christian, Eber, Ernst
Published 2015