Johannes Zschocke - Concepedia

Author

Johannes Zschocke

Also Known As

BURLINA AB, Barbara Fritz, Baumgartner, Matthias, Berg, Jonathan, E. Mönch, ELÇİOĞLU, HURİYE NURSEL, G. F. Hoffmann, Günter Weiss, J Zschocke, J. ZSCHOCKE

534

Publications

17.1K

Citations

H-Index

213

Concepts

All Affiliations

Innsbruck Medical University Heidelberg University University Hospital Heidelberg Universität Innsbruck Heinrich Heine University Düsseldorf

About

Johannes Zschocke is an author at Innsbruck Medical University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	42	91	6K
2	Health Sciences	8	8	670
3	Engineering	7	7	1.1K
4	Education	1	1	20
5	Management	1	1	16

Johannes Zschocke

210

Publications

14K

Citations

H-Index

Page 1

	Year	Citations
The 2017 international classification of the Ehlers–Danlos syndromes Fransiska Malfait, Clair A. Francomano, Peter H. Byers, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2017	1.8K
A survey of tools for variant analysis of next-generation genome sequencing data Stephan Pabinger, Andreas Dander, M. Fischer, Briefings in Bioinformatics EngineeringGeneticsPathologyGenomicsHigh Throughput Sequencing	2013	596
A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype Per Guldberg, Françoise Rey, Johannes Zschocke, The American Journal of Human Genetics Metabolic SyndromeMendelian DisorderBiochemistryGenetic DisorderMedicine	1998	352
The Genetic Landscape and Epidemiology of Phenylketonuria Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, The American Journal of Human Genetics Genetic LandscapeGenetic DisorderMedicineGeneticsGenetic Epidemiology	2020	339
An international classification of inherited metabolic disorders (<scp>ICIMD</scp>) Carlos R. Ferreira, Shamima Rahman, Markus A. Keller, Journal of Inherited Metabolic Disease	2020	321
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase Philippa B. Mills, Robert Surtees, M. P. Champion, Human Molecular Genetics	2005	307
Carnosine as a Protective Factor in Diabetic Nephropathy Bart Janssen, Daniela Hohenadel, Paul T. Brinkkoetter, Diabetes Metabolic SyndromeProtective FactorKidney ResearchMedicineGenetics	2005	283
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, Pediatric Research NutritionMetabolic DisorderPediatric HematologyTreatment EfficacyHematology	2006	266
Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency G. F. Hoffmann, S. Athanassopoulos, A Burlina, Neuropediatrics	1996	227
Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop Ute Spiekerkoetter, Martin Lindner, René Santer, Journal of Inherited Metabolic Disease	2009	219

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