Mgr. Michal Kramárek, Ph.D.
Researcher, Department of Clinical Immunology and Allergology
Correspondence Address:
Pekařská 664/53, 602 00 Brno
E‑mail: |
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Total number of publications: 8
2024
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Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs
Nucleic acids research, year: 2024, volume: 52, edition: 10, DOI
2023
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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Journal of Clinical Immunology, year: 2023, volume: 43, edition: 8, DOI
2022
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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Genetics In Medicine, year: 2022, volume: 24, edition: 2, DOI
2021
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Oligogenic inheritance in a very early onset IBD: causal or random association?
Year: 2021, type: Appeared in Conference without Proceedings
2019
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High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing
RNA BIOLOGY, year: 2019, volume: 16, edition: 10, DOI
2017
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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation
JOURNAL OF MOLECULAR MEDICINE-JMM, year: 2017, volume: 95, edition: 3, DOI
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Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
Clinical Immunology, year: 2017, volume: 180, edition: July, DOI
2014
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No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay
GENES CHROMOSOMES & CANCER, year: 2014, volume: 53, edition: 9, DOI