Johannes Zschocke
Innsbruck Medical University(AT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Biochemical and Molecular Research, Folate and B Vitamins Research
Most-Cited Works
- → The 2017 international classification of the Ehlers–Danlos syndromes(2017)1,816 cited
- → A survey of tools for variant analysis of next-generation genome sequencing data(2013)607 cited
- → A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype(1998)353 cited
- → The Genetic Landscape and Epidemiology of Phenylketonuria(2020)351 cited
- → An international classification of inherited metabolic disorders (ICIMD)(2020)331 cited
- → Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase(2005)307 cited
- → Carnosine as a Protective Factor in Diabetic Nephropathy