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Publications by S. J. MUNDELL

Rapid Genetic Diagnosis of Heritable Platelet Function Disorders With Next-Generation Sequencing: Proof-Of-Principle With Hermansky-Pudlak Syndrome

Journal of Thrombosis and Haemostasis

English

Related publications

An Intractable Case of Hermansky-Pudlak Syndrome

Internal Medicine

Internal Medicine

English

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

Thrombosis and Haemostasis

English

Hermansky-Pudlak Syndrome: A Case Report

Case Reports in Hematology

English

Two Familial Cases of Hermansky-Pudlak Syndrome Discovered With Bloody Discharge

Nippon Daicho Komonbyo Gakkai Zasshi

English

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

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Lessons From Next-Generation Sequencing in Genetic Skeletal Disorders

BoneKEy Reports

English

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

American Journal of Human Genetics

English

Clinical and Molecular Phenotyping of a Child With Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS

Molecular Genetics and Metabolism

Molecular Biology

English

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

Journal of Dermatology

English