12 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. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. Laboratory diagnosis of von Willebrand disease.

   1. Patzke, J
   2. Schneppenheim, Reinhard

   2010 - Forschungsinformationssystem des UKE
10. 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
11. 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
12. 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