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Publications by T. Meitinger
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Neuropediatrics
Medicine
Child Health
Neurology
Pediatrics
Perinatology
Mitochondriale Erkrankungen
Medizinische Genetik
Genetics
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Mutations in Dock1 Disrupt Early Schwann Cell Development
Neural Development
Developmental Neuroscience
Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism
Nature Genetics
Genetics
Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood
Pediatric Research
Child Health
Pediatrics
Perinatology
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
American Journal of Human Genetics
Genetics
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
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
American Journal of Human Genetics
Genetics
Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
American Journal of Human Genetics
Genetics
Inherited DNA Repair Gene Mutations in Men With Lethal Prostate Cancer
Genes
Genetics
Assessment of Cellular Redox State Using NAD(P)H Fluorescence Intensity and Lifetime
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