Johannes Zschocke
0000-0002-0046-8274
Publication & Citation Trends
Publications
530 total
Abstracts APS 2025: 38th Annual Conference and Seminar of the Society for Inborn Errors of Metabolism
Cited by 0
Semantic Scholar
Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background OA
Cited by 2
Semantic Scholar
Abstracts of the 2021 European Federation of Autonomic Societies (EFAS) Congress
Cited by 0
Semantic Scholar
A survey of tools for variant analysis of next-generation genome sequencing data PDF
Cited by 608
OpenAlex
Normal Dopaminergic and Serotonergic Metabolites in Cerebrospinal Fluid and Blood of Restless Legs Syndrome Patients
Cited by 0
Semantic Scholar
The phenylalanine loading test in the differential diagnosis of dystonia
Cited by 37
Semantic Scholar
Homozygous familial hypercholesterolaemia in identical twins.
Cited by 9
Semantic Scholar
Mild trimethylaminuria caused by common variants in FMO3 gene.
Cited by 6
Semantic Scholar
Research Topics
Metabolism and Genetic Disorders
(182)
Genomics and Rare Diseases
(61)
Mitochondrial Function and Pathology
(60)
Biochemical and Molecular Research
(47)
Folate and B Vitamins Research
(39)
Affiliations
Open Text (Canada)
Boston Children's Hospital
Springer Nature (Germany)
Defence Research and Development Organisation
University of Padua