4 Einträge gefunden

1. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

   1. Schneppenheim, Reinhard
   2. Frühwald, Michael C
   3. Gesk, Stefan
   4. Hasselblatt, Martin
   5. Jeibmann, Astrid
   6. Kordes, Uwe
   7. Kreuz, Markus

   2010 - Forschungsinformationssystem des UKE
2. Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.

   1. Castaman, G
   2. Giacomelli, S H
   3. Jacobi, P
   4. Obser, Tobias
   5. Budde, U
   6. Rodeghiero, F
   7. Haberichter, S L

   2010 - Forschungsinformationssystem des UKE
3. The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.

   1. Haberichter, Sandra L
   2. Ulrich, Budde
   3. Obser, Tobias
   4. Schneppenheim, Sonja
   5. Wermes, Cornelia
   6. Schneppenheim, Reinhard

   2010 - Forschungsinformationssystem des UKE
4. A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

   1. Schneppenheim, Reinhard
   2. Michiels, Jan Jacques
   3. Obser, Tobias
   4. Oyen, Florian
   5. Pieconka, Antje
   6. Schneppenheim, Sonja
   7. Will, Kerstin

   2010 - Forschungsinformationssystem des UKE