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Johannes Zschocke | Researchclopedia

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Johannes Zschocke

Innsbruck Medical University ORCID

532

Works

17,190

Citations

66

h-index

250

i10-index

Research Topics

Metabolism and Genetic Disorders Genomics and Rare Diseases Mitochondrial Function and Pathology

Affiliations

Open Text (Canada)2016–2016

Boston Children's Hospital1999–2001

Springer Nature (Germany)2012–2012

Defence Research and Development Organisation2005–2005

University of Padua2004–2004

Top Works

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait,Clair A. Francomano,et al.

20171,822 citations

Biochemical and Molecular Research

Folate and B Vitamins Research

A survey of tools for variant analysis of next-generation genome sequencing data

Stephan Pabinger,Andreas Dander,et al.

2013607 citations

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,et al.

1998353 citations

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert,Yair Anikster,et al.

2020353 citations

An international classification of inherited metabolic disorders (<scp>ICIMD</scp>)

Carlos R. Ferreira,Shamima Rahman,et al.

2020331 citations

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase

Philippa B. Mills,Robert Surtees,et al.

2005307 citations

Carnosine as a Protective Factor in Diabetic Nephropathy

Bart Janssen,Daniela Hohenadel,et al.

2005287 citations

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker,Sven F. Garbade,et al.

2006269 citations

The Ehlers–Danlos syndromes, rare types

Angela F. Brady,Serwet Demirdas,et al.

2017239 citations