Johannes Zschocke

Johannes Zschocke

Medizinische Universität Innsbruck - Innsbruck / Austria
Others
AD Scientific Index ID: 1422811
Medical University Innsbruck
person_outline Johannes Zschocke's MOST POPULAR ARTICLES
1-) The 2017 international classification of the Ehlers–Danlos syndromesF Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ...American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 201711662017
2-) A survey of tools for variant analysis of next-generation genome sequencing dataS Pabinger, A Dander, M Fischer, R Snajder, M Sperk, M Efremova, ...Briefings in bioinformatics 15 (2), 256-278, 20147052014
3-) A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, V Romano, B François, L Michiels, ...The American Journal of Human Genetics 63 (1), 71-79, 19984661998
4-) Carnosine as a Protective Factor in Diabetic Nephropathy: Association With a Leucine Repeat of the Carnosinase Gene CNDP1B Janssen, D Hohenadel, P Brinkkoetter, V Peters, N Rind, C Fischer, ...Diabetes 54 (8), 2320-2327, 20053832005
5-) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidasePB Mills, RAH Surtees, MP Champion, CE Beesley, N Dalton, ...Human molecular genetics 14 (8), 1077-1086, 20053642005