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: 105
2020
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Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact
Frontiers in Genetics, year: 2020, volume: 11, edition: JUN 2020, DOI
2019
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A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
Year: 2019, type: Conference abstract
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A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
HUMAN GENOME VARIATION, year: 2019, volume: 6, edition: MAR, DOI
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Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia
Annals of hematology, year: 2019, volume: 98, edition: 2, DOI
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Bending of DNA duplexes with mutation motifs
DNA RESEARCH, year: 2019, volume: 26, edition: 4, DOI
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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
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Inherited ichthyoses: molecular causes of the disease in Czech patients
ORPHANET JOURNAL OF RARE DISEASES, year: 2019, volume: 14, edition: 92, DOI
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LDLR variants in the beta-propeller subdomain and their effect on the protein maturation and unfolded protein response.
Year: 2019, type: Conference abstract
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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8
Haematologica, year: 2019, volume: 104, edition: 1, DOI
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Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
Genes, year: 2019, volume: 10, edition: 6, DOI