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Sophie Schäfer
Sophie Schäfer
Medicine
Hermansky–Pudlak syndrome
Immunodeficiency
Frameshift mutation
Neutropenia
2
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Giant Aneurysm of a Coronary-Pulmonary Artery Fistula: A Rare Cause of a Diastolic Murmur
2019
Andreas Seitz
Sophie Schäfer
Maik Backes
Heiko Mahrholdt
Peter Ong
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Patients with Hermansky-Pudlak Syndrome Show Various Phenotypes Caused by Novel Mutations,
2011
Blood
K. Sandrock
Karin Kurnik
Stephan Ehl
Christoph Bidlingmaier
Lea Nakamura
Nina Rombach
Sophie Schäfer
Barbara Zieger
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