3 Einträge gefunden

1. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

   1. Gripp, Karen W
   2. Baker, Laura
   3. Robbins, Katherine M
   4. Stabley, Deborah L
   5. Bellus, Gary A
   6. Kolbe, Verena
   7. Nauth, Theresa

   2020 - Forschungsinformationssystem des UKE
2. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

   1. Kloth, Katja
   2. Renner, Sina
   3. Burmester, Gunter
   4. Steinemann, Doris
   5. Pabst, Brigitte
   6. Lorenz, Birgit
   7. Simon, Ronald

   2019 - Forschungsinformationssystem des UKE
3. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

   1. Gripp, Karen W
   2. Kolbe, Verena
   3. Brandenstein, Laura Isabel
   4. Rosenberger, Georg

   2017 - Forschungsinformationssystem des UKE