Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study

por Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara
Publicado 2018

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

por Boeckelmann, Doris, Wolter, Mira, Käsmann-Kellner, Barbara, Koehler, Udo, Schieber-Nakamura, Lea, Zieger, Barbara
Publicado 2021

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3

por Siddiqi, Muhammad Younus Jamal, Boeckelmann, Doris, Naz, Arshi, Imran, Ayisha, Ahmed, Shariq, Najmuddin, Akbar, Zieger, Barbara
Publicado 2023

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

por Boeckelmann, Doris, Wolter, Mira, Neubauer, Katharina, Sobotta, Felix, Lenz, Antonia, Glonnegger, Hannah, Käsmann-Kellner, Barbara, Mann, Jasmin, Ehl, Stephan, Zieger, Barbara
Publicado 2022

High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis

por Fernandez, Delia I., Provenzale, Isabella, Canault, Matthias, Fels, Salome, Lenz, Antonia, Andresen, Felicia, Krümpel, Anne, Dupuis, Arnaud, Heemskerk, Johan W. M., Boeckelmann, Doris, Zieger, Barbara
Publicado 2023

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

por Bastida, José M., Malvestiti, Stefano, Boeckelmann, Doris, Palma-Barqueros, Verónica, Wolter, Mira, Lozano, María L., Glonnegger, Hannah, Benito, Rocío, Zaninetti, Carlo, Sobotta, Felix, Schilling, Freimut H., Morgan, Neil V., Freson, Kathleen, Rivera, José, Zieger, Barbara
Publicado 2022