5 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. Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage

   1. Sauvigny, Thomas
   2. Alawi, Malik
   3. Krause, Linda
   4. Renner, Sina
   5. Spohn, Michael
   6. Busch, Alice
   7. Kolbe, Verena

   2020 - Forschungsinformationssystem des UKE
3. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

   1. Renner, Sina
   2. Schüler, Helke
   3. Alawi, Malik
   4. Kolbe, Verena
   5. Rybczynski, Meike
   6. Woitschach, Rixa
   7. Sheikhzadeh, Sara

   2019 - Forschungsinformationssystem des UKE
4. 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
5. 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