11 Einträge gefunden

1. Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.

   1. Klukowska, Anna
   2. Niewiadomska, Edyta
   3. Ulrich, Budde
   4. Oyen, Florian
   5. Schneppenheim, Reinhard

   2010 - Forschungsinformationssystem des UKE
2. 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
3. Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

   1. Kordes, Uwe
   2. Briem-Richter, Andrea
   3. Santer, René
   4. Schäfer, Hansjörg
   5. Singer, Dominique
   6. Sonntag, Josef
   7. Steuerwald, Ulrike

   2010 - Forschungsinformationssystem des UKE
4. Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.

   1. Kordes, Uwe
   2. Briem-Richter, Andrea
   3. Santer, René
   4. Schäfer, Hansjörg
   5. Singer, Dominique
   6. Sonntag, J
   7. Steuerwald, U

   2010 - Forschungsinformationssystem des UKE
5. Using ImageJ for the quantitative analysis of flow-based adhesion assays in real-time under physiologic flow conditions.

   1. Sascha, Meyer Dos Santos
   2. Klinkhardt, Ute
   3. Schneppenheim, Reinhard
   4. Harder, Sebastian

   2010 - Forschungsinformationssystem des UKE
6. 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
7. 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
8. Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD.

   1. Castaman, G
   2. Tosetto, A
   3. Cappelletti, A
   4. Goodeve, A
   5. Federici, A B
   6. Batlle, J
   7. Meyer, D

   2010 - Forschungsinformationssystem des UKE
9. Severe bleeding diathesis associated with moderate thrombocytopenia - diagnostic workup of seven family members with type 2B von Willebrand's disease.

   1. Zdziarska, J
   2. Iwaniec, T
   3. Skotnicki, A B
   4. Musia, J
   5. Schneppenheim, Reinhard
   6. Budde, U
   7. Kentouche, K

   2010 - Forschungsinformationssystem des UKE
10. Loss of SMARCB1/INI1 expression in poorly differentiated chordomas.

    1. Mobley, Bret C
    2. McKenney, Jesse K
    3. Bangs, Charles D
    4. Callahan, Katherine
    5. Yeom, Kristen W
    6. Schneppenheim, Reinhard
    7. Hayden, Melanie G

    2010 - Forschungsinformationssystem des UKE
11. Laboratory diagnosis of von Willebrand disease.

    1. Patzke, J
    2. Schneppenheim, Reinhard

    2010 - Forschungsinformationssystem des UKE