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Author Details
Full Name
Tim Jeske
Affiliation
Dr. von Hauner Children's Hospital
ORCID
Career Start Year
2017
Papers
10
H Index
6
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36223592
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
2023
32633164
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Immunol Invest
2021
33683986
New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.
Pediatr Dev Pathol
2021
33598926
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Clin Genet
2021
33264411
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
2021
32710398
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
J Clin Immunol
2020
32032351
SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
PLoS Comput Biol
2020
31115454
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Inflamm Bowel Dis
2019
31228198
DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences.
Bioinformatics
2019
28069593
KNIME4NGS: a comprehensive toolbox for next generation sequencing analysis.
Bioinformatics
2017
1 - 10 of 10
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