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C Van Karnebeek

C Van Karnebeek

University of Amsterdam - Amsterdam / Netherlands
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AD Scientific Index ID: 924422
Universiteit van Amsterdam
person_outline C Van Karnebeek's MOST POPULAR ARTICLES
1-) Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Molecular genetics and metabolism 104 (1-2), 48-60, 2011
2-) Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness European journal of human genetics 13 (1), 6-25, 2005
3-) Exome sequencing and the management of neurometabolic disorders New England Journal of Medicine 374 (23), 2246-2255, 2016
4-) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Genetics in Medicine 19 (12), 1380-1380, 2017
5-) A proposed nosology of inborn errors of metabolism Genetics in medicine 21 (1), 102-106, 2019