Clara van Karnebeek
Emma Kinderziekenhuis(NL)Amsterdam University Medical Centers(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Biochemical and Molecular Research
Most-Cited Works
- → Pyridoxine dependent epilepsy and antiquitin deficiency(2011)300 cited
- → Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society(2017)286 cited
- → Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness(2004)284 cited
- → Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders(2017)271 cited
- → A proposed nosology of inborn errors of metabolism(2018)261 cited
- → Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations(2017)240 cited