Platelet dysfunction caused by a novel thromboxane A2 receptor mutation and congenital thrombocytopenia in a case of mild bleeding

by Peter Bugert, Lars Fischer, Karina Althaus, Ralf Knöfler, Tamam Bakchoul
Published 2020-02-01

Influencing Factors and Differences in Born Aggregometry in Specialized Hemostaseological Centers: Results of a Multicenter Laboratory Comparison

by Thorsten Kaiser, Karin Liebscher, Ute Scholz, Christian Pfrepper, Jeffrey Netto, Tim Drogies, Oliver Tiebel, Ralf Knöfler, Michael Krause
Published 2022-07-01

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

by Julia Körholz, Nadja Lucas, Franziska Boiti, Karina Althaus, Oliver Tiebel, Mingyan Fang, Reinhard Berner, Min Ae Lee-Kirsch, Ralf Knöfler
Published 2020-10-01

A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy

by Angelina Beer, Ricardo Beck, Anne Schedel, Malte vonBonin, Jörn Meinel, Ulrike Anne Friedrich, Maria Menzel, Meinolf Suttorp, Sebastian Brenner, Guido Fitze, Björn Lange, Ralf Knöfler, Julia Hauer, Franziska Auer
Published 2021-09-01

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

by Oliver Andres, Eva-Maria König, Karina Althaus, Tamam Bakchoul, Peter Bugert, Stefan Eber, Ralf Knöfler, Erdmute Kunstmann, Georgi Manukjan, Oliver Meyer, Gabriele Strauß, Werner Streif, Thomas Thiele, Verena Wiegering, Eva Klopocki, Harald Schulze
Published 2018-10-01

Correction of a Factor VIII genomic inversion with designer-recombinases

by Felix Lansing, Liliya Mukhametzyanova, Teresa Rojo-Romanos, Kentaro Iwasawa, Masaki Kimura, Maciej Paszkowski-Rogacz, Janet Karpinski, Tobias Grass, Jan Sonntag, Paul Martin Schneider, Ceren Günes, Jenna Hoersten, Lukas Theo Schmitt, Natalia Rodriguez-Muela, Ralf Knöfler, Takanori Takebe, Frank Buchholz
Published 2022-01-01

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

by Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Published 2018-11-01

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

by Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Published 2018-10-01

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency

by Julia Körholz, Julia Körholz, Anastasia Gabrielyan, John M. Sowerby, John M. Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Min Ae Lee-Kirsch, Kenneth G. C. Smith, Kenneth G. C. Smith, Stefan Mundlos, Stefan Mundlos, Stefan Mundlos, Stefan Mundlos, Reinhard Berner, Reinhard Berner, Alexander H. Dalpke, Catharina Schuetz, Catharina Schuetz, William Rae, William Rae
Published 2021-08-01