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Publications by J. Mayr

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Neuropediatrics

English

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Mutations in Dock1 Disrupt Early Schwann Cell Development

Neural Development

Developmental Neuroscience

English

Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

Nature Genetics

English

Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood

Pediatric Research

English

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

Piebald Lethal (Sl) Acts Early to Disrupt the Development of Neural Crest-Derived Melanocytes.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Inherited DNA Repair Gene Mutations in Men With Lethal Prostate Cancer

English

Assessment of Cellular Redox State Using NAD(P)H Fluorescence Intensity and Lifetime

English