Mgr. Kamila Réblová, Ph.D.
Senior researcher, Šárka Pospíšilová Research Group
office: bldg. E35/218
Kamenice 753/5
625 00 Brno
phone: | +420 549 49 7586 |
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e‑mail: |
social and academic networks: |
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Total number of publications: 109
2024
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A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study
British journal of haematology, year: 2024, volume: 205, edition: 6, DOI
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Analýza repetic u myotonické dystrofie 1 pomocí nanopórového sekvenování
Year: 2024, type: Conference abstract
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Genetic background of Czech myopathy patients.
Year: 2024, type: Conference abstract
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Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis
Journal of Medical Genetics, year: 2024, volume: 61, edition: 9, DOI
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Molekulárně genetická diagnostika epilepsií a epileptických syndromů
Year: 2024, type: Conference abstract
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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
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Unveiling the dynamics and molecular landscape of a rare chronic lymphocytic leukemia subpopulation driving refractoriness: insights from single-cell RNA sequencing
Molecular oncology, year: 2024, volume: 18, edition: 10, DOI
2023
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Detection of multiexon deletions and duplications in genes associated with neuromuscular disorders
Year: 2023, type: Conference abstract
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Genetic findings in Czech patients with limb girdle muscular dystrophy
Clinical Genetics, year: 2023, volume: 104, edition: 5, DOI
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Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.
Year: 2023, type: Conference abstract