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Publications by Georg F. Hoffmann
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Ultra-Orphan Diseases: A Quantitative Analysis of the Natural History of Molybdenum Cofactor Deficiency
Genetics in Medicine
Medicine
Genetics
Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering—A Cross-Sectional Analysis
Oncologist
Cancer Research
Medicine
Oncology
Early Prediction of Phenotypic Severity in Citrullinemia Type 1
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency
European Journal of Human Genetics
Genetics
Risk Factors for Childhood Overweight and Obesity in Ukraine and Germany
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Identification of an Active Site Alanine in Mevalonate Kinase Through Characterization of a Novel Mutation in Mevalonate Kinase Deficiency
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
