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Publications by Arndt Rolfs

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American Journal of Human Genetics

English

Lifestyle Risk Factors for Ischemic Stroke and Transient Ischemic Attack in Young Adults in the Stroke in Young Fabry Patients Study

Cardiovascular Medicine

Specialized Nursing

English

Rapid Intravenous Infusion of Velaglucerase-Alfa in Adults With Type 1 Gaucher Disease

American Journal of Hematology

English

Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)

English

Glucosylsphingosine Is a Reliable Response Biomarker in Gaucher Disease

American Journal of Hematology

English

Pharmacologic Properties of High-Dose Ambroxol in Four Patients With Gaucher Disease and Myoclonic Epilepsy

Journal of Medical Genetics

English

Clinical Exome Sequencing: Results From 2819 Samples Reflecting 1000 Families

European Journal of Human Genetics

English

NovelGNB1missense Mutation in a Patient With Generalized Dystonia, Hypotonia, and Intellectual Disability

Neurology: Genetics

English

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

Multidisciplinary

English