Roxanne Fischer Selected Research

Albinism

1/2020

Hermansky-Pudlak syndrome: Mutation update.

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Roxanne Fischer Research Topics

Disease

4	Agenesis of Cerebellar Vermis 12/2017 - 12/2015
2	Hemorrhage 01/2020 - 01/2013
1	Albinism 01/2020
1	Disease Susceptibility (Diathesis) 01/2020
1	Undiagnosed Diseases 01/2017
1	Ciliopathies 12/2015
1	Lung Diseases (Lung Disease) 12/2014
1	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome) 12/2014
1	Oculocutaneous Albinism (Albinism, Yellow Mutant) 06/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 06/2013
1	Arthritis (Polyarthritis) 12/2009
1	Alkaptonuria 12/2009
1	Ochronosis 12/2009

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2020 - 01/2017
3	DNA (Deoxyribonucleic Acid)IBA 12/2017 - 06/2013
2	Growth Hormone (Somatotropin)IBA 03/2017 - 01/2017
1	Uridine Diphosphate (UDP)IBA 01/2017
1	RNA (Ribonucleic Acid)IBA 12/2015
1	Biomarkers (Surrogate Marker)IBA 12/2014
1	Melanins (Melanin)IBA 06/2013
1	Homogentisic AcidIBA 12/2009
1	Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA 12/2009

Therapy/Procedure

1	Surgical Portasystemic Shunt (Portosystemic Shunt) 01/2013