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Publications by Helia Berrit Schonthaler

The Zebrafishfade outMutant: A Novel Genetic Model for Hermansky–Pudlak Syndrome

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Related publications

Hermansky-Pudlak Syndrome: A Case Report

Case Reports in Hematology

English

An Intractable Case of Hermansky-Pudlak Syndrome

Internal Medicine

Internal Medicine

English

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

American Journal of Respiratory and Critical Care Medicine

Respiratory Medicine

Intensive Care Medicine

English

Surgery for Secondary Pneumothorax Caused by Hermansky–Pudlak Syndrome: Figure 1–

European Respiratory Journal

Respiratory Medicine

English

Evidence for Locus Heterogeneity in Puerto Ricans With Hermansky-Pudlak Syndrome

American Journal of Human Genetics

English

516 a Very Rare Case Report of Hermansky-Pudlak Syndrome Type Ii

Archives of Disease in Childhood

English

Speckled Lentiginous Nevus in a Patient With Hermansky-Pudlak Syndrome Type 1

Journal of Dermatology

English

Diffuse Pulmonary Fibrosis and the Hermansky-Pudlak Syndrome: Clinical Course and Postmortem Findings.

Respiratory Medicine

English

Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

Thrombosis and Haemostasis

English