Pregled po CROSBI profilu: Ivana Mihalek (CROSBI Profil: 38087)
Pronađeno 53 radova
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1.Indel game
Rijeka: (bez nakladnika), 2021 -
2.Metode visoke propusnosti u medicinskoj dijagnostici 2021
Rijeka: (bez nakladnika), 2021 -
3.Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint // Oncogene, 39 (2020), 3443-3457 doi:10.1038/s41388-020-1231-6 (međunarodna recenzija, članak, znanstveni)
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4.High throughput methods in medical diagnostics 2019
Rijeka: (bez nakladnika), 2019 -
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6.Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region // Epilepsia, 60 (2019), 3; 406-418 doi:10.1111/epi.14653 (međunarodna recenzija, članak, znanstveni)
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7.A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome // American Journal of Medical Genetics Part A, 179 (2019), 1866-1871 doi:10.1002/ajmg.a.61291 (međunarodna recenzija, članak, znanstveni)
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8.Gunshot sequencing game
Rijeka: (bez nakladnika), 2018 -
9.The C-terminal extension unique to the long isoform of the shelterin component TIN2 enhances its interaction with TRF2 in a phosphorylation- and dyskeratosis congenita cluster-dependent fashion // Molecular and cellular biology, 38 (2018), 12; e00025, 18 doi:10.1128/mcb.00025-18 (međunarodna recenzija, članak, znanstveni)
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10.Estimating incidence of inborn errors of metabolism from the frequency of variants in general population. // American Society of Human Genetics 67thAnnual Meeting
Orlando (FL), Sjedinjene Američke Države, 2017. str. 473-473 (poster, međunarodna recenzija, sažetak, znanstveni) -
11.A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure // PLOS ONE, 12 (2017), 12; 0189324, 17 doi:10.1371/journal.pone.0189324 (međunarodna recenzija, članak, znanstveni)
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12.Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure // Molecular Case Studies, 3 (2017), 6; a00214, 10 doi:10.1101/mcs.a002147 (međunarodna recenzija, članak, znanstveni)
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13.Molecular map of GNAO1-related disease phenotypes and reactions to therapy, 2017. doi:10.1101/232058 (rukopis).
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14.Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype // Clinical Genetics, 89 (2015), 3; 359-366 doi:10.1111/cge.12608 (međunarodna recenzija, članak, znanstveni)
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15.Active Site Coupling in PDE:PKA Complexes Promotes Resetting of Mammalian cAMP Signaling // Biophysical Journal, 107 (2014), 6; 1426-1440 doi:10.1016/j.bpj.2014.07.050 (međunarodna recenzija, članak, znanstveni)
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16.ExoLocator—an online view into genetic makeup of vertebrate proteins // Nucleic acids research, 42 (2014), D1; 879-881 doi:10.1093/nar/gkt1164 (međunarodna recenzija, članak, znanstveni)
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17.Exolocator - hunt for missing pieces of coding genes in full vertebrate genomes // Bioinformatics Institute Annual Meeting
Singapur, 2013. str. 8-8 (predavanje, sažetak, znanstveni) -
18.Cube - An Online Tool for Comparison and Contrasting of Protein Sequences // PLoS ONE, 8 (2013), 11; e79480, 5 doi:10.1371/journal.pone.0079480 (međunarodna recenzija, članak, znanstveni)
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19.TRF2 Interaction with Ku Heterotetramerization Interface Gives Insight into c-NHEJ Prevention at Human Telomeres // Cell Reports, 5 (2013), 1; 194-206 doi:10.1016/j.celrep.2013.08.040 (međunarodna recenzija, članak, znanstveni)
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20.Hydrogen exchange mass spectrometry, molecular dynamics, and bioinformatics in the elucidation of protein dynamics and interactions // Bioinformatics Institute Annual Meeting
Singapur, 2012. str. 1-1 (predavanje, sažetak, znanstveni) -
21.Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations // PEDIATRICS, 130 (2012), 4; e1034-e1039 doi:10.1542/peds.2011-2711 (međunarodna recenzija, članak, znanstveni)
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22.Protein structure comparison: from substructure to dynamics - deconSTRUCT server // Bioinformatics Insitute Annual Meeting
Singapur, 2011. str. 1-1 (predavanje, sažetak, znanstveni) -
23.Determinants, Discriminants, Conserved Residues - A Heuristic Approach to Detection of Functional Divergence in Protein Families // PLoS ONE, 6 (2011), 9; e24382, 10 doi:10.1371/journal.pone.0024382 (međunarodna recenzija, članak, znanstveni)
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24.Cube-DB: detection of functional divergence in human protein families // Nucleic Acids Research, 40 (2011), D1; D490-D494 doi:10.1093/nar/gkr1129 (međunarodna recenzija, članak, znanstveni)
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25.deconSTRUCT: general purpose protein database search on the substructure level // Nucleic Acids Research, 38 (2010), suppl_2; W590-W594 doi:10.1093/nar/gkq489 (međunarodna recenzija, članak, znanstveni)
