Mira Wolter

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

S. Ehl, B. Zieger, B. Käsmann-Kellner, 2022, Frontiers in Pharmacology.

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

N. Morgan, K. Freson, R. Benito, 2022, Cells.

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

U. Koehler, B. Zieger, B. Käsmann-Kellner, 2021, Cells.