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15 Einträge gefunden

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany
2018 - Forschungsinformationssystem des UKE
Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion
2014 - Forschungsinformationssystem des UKE
Platelet-free shear flow assay facilitates analysis of shear-dependent functions of VWF and ADAMTS13
2014 - Forschungsinformationssystem des UKE
Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells
2014 - Forschungsinformationssystem des UKE
Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
2013 - Forschungsinformationssystem des UKE
Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.
1. Mohl, A
2. Boda, Z
3. Jager, R
4. Losonczy, H
5. Marosi, A
6. Masszi, T
7. Nagy, E
2011 - Forschungsinformationssystem des UKE
Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
2011 - Forschungsinformationssystem des UKE
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
2010 - Forschungsinformationssystem des UKE
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
2010 - Forschungsinformationssystem des UKE
The problem of novel FVIII missense mutations for haemophilia A genetic counseling.
2009 - Forschungsinformationssystem des UKE
Response to DDAVP in children with von Willebrand disease type 2.
2009 - Forschungsinformationssystem des UKE
An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary.
2008 - Forschungsinformationssystem des UKE
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
2008 - Forschungsinformationssystem des UKE
Gene conversions are a common cause of von Willebrand disease.
2005 - Forschungsinformationssystem des UKE
Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.
2004 - Forschungsinformationssystem des UKE

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Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany

Characterisation of the p.A1461D mutation causing von Willebrand disease type 2B with severe thrombocytopenia, circulating giant platelets, and defective α-granule secretion

Platelet-free shear flow assay facilitates analysis of shear-dependent functions of VWF and ADAMTS13

Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells

Characterisation of mutations and molecular studies of type 2 von Willebrand disease.

Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.

Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.

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

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

Response to DDAVP in children with von Willebrand disease type 2.

An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary.

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Gene conversions are a common cause of von Willebrand disease.

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.