Manuela Germeshausen

Carl Neuberg Str. 1
Hannover, NI 30625, Germany

Last Updated: 09/26/2026

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Found 18 publications

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

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

Journal: Hamostaseologie

Published: November 02, 2023

Congenital amegakaryocytic thrombocytopenia - Not a single disease.

Congenital amegakaryocytic thrombocytopenia - Not a single disease.

Journal: Best practice & research. Clinical haematology

Published: July 05, 2021

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

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

Journal: Haematologica

Published: May 04, 2020

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

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

Journal: Blood advances

Published: January 21, 2018

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

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

Journal: European journal of medical genetics

Published: August 25, 2017

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

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

Journal: Blood

Published: December 24, 2015

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

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

Journal: Haematologica

Published: April 26, 2015

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

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

Journal: European journal of haematology

Published: April 16, 2014

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

Journal: Pediatric blood & cancer

Published: February 25, 2013

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Journal: Human mutation

Published: October 27, 2012

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.

Journal: Journal of pediatric hematology/oncology

Published: September 29, 2012

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.

Journal: Seminars in thrombosis and hemostasis

Published: November 22, 2011

Showing 1-12 of 18

Last Updated: 09/26/2026