Suchergebnisse - "Germeshausen, Manuela"

PubPharm (87)

1

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

enthalten in: Hamostaseologie | 2023

von Ballmaier, M. | Germeshausen, M. | Schulze, H. | +2

2

CAMT-MPL : congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients

enthalten in: Haematologica | 2021

von Germeshausen, M. | Ballmaier, M.

3

Congenital amegakaryocytic thrombocytopenia - Not a single disease

enthalten in: Best practice & research. Clinical haematology | 2021

von Germeshausen, M. | Ballmaier, M.

4

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases

enthalten in: European journal of medical genetics | 2018

von Balduini, A. | Raslova, H. | Di Buduo, C. | +4

5

MECOM-associated syndrome : a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

enthalten in: Blood advances | 2018

von Germeshausen, M. | Ancliff, P. | Estrada, J. | +9

6

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2016

von Simeoni, I. | Stephens, J. | Hu, F. | +76

CommentIn: Blood. 2016 Jun 9;127(23 ):2781-2. - PMID 27282940

7

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

enthalten in: Blood | 2016

von Simeoni, I. | Stephens, J. | Hu, F. | +76

8

Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias

enthalten in: Haematologica | 2015

von Ballmaier, M. | Holter, W. | Germeshausen, M.

9

αIIbβ3 variants defined by next-generation sequencing : predicting variants likely to cause Glanzmann thrombasthenia

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2015

von Buitrago, L. | Rendon, A. | Liang, Y. | +72

10

A novel G6PC3 gene mutation in severe congenital neutropenia : pancytopenia and variable bone marrow phenotype can also be part of this syndrome

enthalten in: European journal of haematology | 2015

von Arikoglu, T. | Kuyucu, N. | Germeshausen, M. | +1

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