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Journal Article
Ammann, Sandra 
ORCID: 0000-0003-0385-1890, Schulz, Ansgar, Kraegeloh-Mann, Ingeborg, Dieckmann, Nele M. G., Niethammer, Klaus, Fuchs, Sebastian ORCID: 0000-0001-9191-7970, Eckl, Katja Martina, Plank, Roswitha, Werner, Roland, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Bank, Julia, Strauss, Anne, von Bernuth, Horst, zur Stadt, Udo, Grieve, Samantha, Griffiths, Gillian M., Lehmberg, Kai, Hennies, Hans Christian and Ehl, Stephan
(2016).
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Blood, 127 (8).
S. 997 - 1007.
WASHINGTON:
AMER SOC HEMATOLOGY.
ISSN 1528-0020
Hackmann, Yvonne, Graham, Stephen C., Ehl, Stephan ORCID: 0000-0002-9265-2721, Hoening, Stefan, Lehmberg, Kai, Arico, Maurizio ORCID: 0000-0002-1908-6671, Owen, David J. and Griffiths, Gillian M.
(2013).
Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
Proc. Natl. Acad. Sci. U. S. A., 110 (47).
S. E4482 - 10.
WASHINGTON:
NATL ACAD SCIENCES.
ISSN 0027-8424