23 Einträge gefunden

1. Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome

   1. Hasselblatt, M
   2. Kurniawan, A D
   3. Rozsnoki, S
   4. Johann, P D
   5. Bens, S
   6. Oyen, F
   7. Schneppenheim, R

   2018 - Forschungsinformationssystem des UKE
2. Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series

   1. Lehmberg, K
   2. Hassenpflug, W A
   3. Klaassen, I
   4. Hillebrand, G
   5. Oyen, F
   6. Budde, U
   7. Singer, D

   2017 - Forschungsinformationssystem des UKE
3. Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

   1. Obser, T
   2. Ledford-Kraemer, M
   3. Oyen, F
   4. Brehm, M A
   5. Denis, C V
   6. Marschalek, R
   7. Montgomery, R R

   2016 - Forschungsinformationssystem des UKE
4. Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project

   1. Maurer, M
   2. Mesters, R
   3. Schneppenheim, R
   4. Knoefler, R
   5. Streif, W

   2015 - Forschungsinformationssystem des UKE
5. Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady

   1. Maurer, M
   2. Mesters, R
   3. Schneppenheim, R
   4. Streif, W

   2015 - Forschungsinformationssystem des UKE
6. Interactions of von Willebrand factor and ADAMTS13 in von Willebrand disease and thrombotic thrombocytopenic purpura

   1. Budde, U
   2. Schneppenheim, R

   2014 - Forschungsinformationssystem des UKE
7. Identification of novel NOTCH1 mutations: increasing our knowledge of the NOTCH signaling pathway

   1. Gallo Llorente, Lucía
   2. Luther, H
   3. Schneppenheim, R
   4. Zimmermann, M
   5. Felice, M
   6. Horstmann, M A

   2014 - Forschungsinformationssystem des UKE
8. Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry

   1. Seeringer, A
   2. Bartelheim, K
   3. Kerl, K
   4. Hasselblatt, M
   5. Leuschner, I
   6. Rutkowski, S
   7. Timmermann, B

   2014 - Forschungsinformationssystem des UKE
9. Successful second ITI with factor IX and combined immunosuppressive therapy. A patient with severe haemophilia B and recurrence of a factor IX inhibitor

   1. Holstein, K
   2. Schneppenheim, R
   3. Schrum, J
   4. Bokemeyer, C
   5. Langer, F

   2014 - Forschungsinformationssystem des UKE
10. Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease

    1. Ahmad, F
    2. Oyen, F
    3. Jan, R
    4. Budde, U
    5. Schneppenheim, R
    6. Saxena, R

    2014 - Forschungsinformationssystem des UKE
11. Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations

    1. Jokela, V
    2. Lassila, R
    3. Szanto, T
    4. Joutsi-Korhonen, L
    5. Armstrong, E
    6. Oyen, F
    7. Schneppenheim, S

    2013 - Forschungsinformationssystem des UKE
12. Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient

    1. Enayat, M S
    2. Ravanbod, S
    3. Rassoulzadegan, M
    4. Jazebi, M
    5. Ala, F
    6. Budde, U
    7. Schneppenheim, S

    2013 - Forschungsinformationssystem des UKE
13. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

    1. Hickson, N
    2. Hampshire, D
    3. Winship, P
    4. Goudemand, J
    5. Schneppenheim, R
    6. Budde, U
    7. Castaman, G

    2010 - Forschungsinformationssystem des UKE
14. Thrombotic microangiopathy in a 17-year-old Patient: TTP, HUS or a bit of both?

    1. Gerth, J
    2. Busch, M
    3. Oyen, F
    4. Schneppenheim, R
    5. Keller, T
    6. Budde, U
    7. Groene, H-J

    2007 - Forschungsinformationssystem des UKE
15. A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3.

    1. Schneppenheim, R
    2. Castaman, G
    3. Federici, A B
    4. Kreuz, W
    5. Marschalek, R
    6. Oldenburg, J
    7. Oyen, Florian

    2007 - Forschungsinformationssystem des UKE
16. Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

    1. Mühlhausen, C
    2. Schneppenheim, R
    3. Budde, U
    4. Merkel, M
    5. Muschol, N
    6. Ullrich, K
    7. Santer, R

    2005 - Forschungsinformationssystem des UKE
17. Diagnosis of thrombotic thrombocytopenic purpura, Diagnose der thrombotisch-thrombozytopenischen Purpura

    1. Budde, U
    2. Angerhaus, D
    3. Obser, T
    4. Schneppenheim, R

    2004 - Forschungsinformationssystem des UKE
18. [Thrombotic thrombocytopenic purpura in childhood]

    1. Hassenpflug, W-A
    2. Angerhaus, D
    3. Budde, U
    4. Obser, Tobias
    5. Schneppenheim, R

    2004 - Forschungsinformationssystem des UKE
19. Homozygous Factor V Leiden mutation in sickle cell anaemia.

    1. Kordes, Uwe
    2. Janka-Schaub, Gritta
    3. Schneppenheim, R

    2002 - Forschungsinformationssystem des UKE
20. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

    1. Santer, René
    2. Kinner, M
    3. Passarge, M
    4. Superti-Furga, A
    5. Mayatepek, E
    6. Meissner, T
    7. Schneppenheim, R

    2001 - Forschungsinformationssystem des UKE