Pregled po CROSBI profilu: Martina Rinčić (CROSBI Profil: 26561, MBZ: 311472, ORCID: 0000-0003-0390-5967)
Pronađeno 41 radova
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26.Neurodevelopmental genes in new microdeletion/microduplication region in chromosome 1p21 // 5th Croatian Neuroscience Congress
Split, Hrvatska, 2015. (poster, domaća recenzija, sažetak, znanstveni) -
27.Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma // Translational Neuroscience, 6 (2015), 1; 59-86 doi:10.1515/tnsci-2015-0007 (međunarodna recenzija, članak, znanstveni)
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28.A Novel Cryptic Three-Way Translocation t(2 ; 9 ; 18)(p23.2 ; p21.3 ; q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia. // Leukemia Research and Treatment, 2014 (2014) (podatak o recenziji nije dostupan, prikaz, znanstveni)
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29.Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH) // MOLECULAR CYTOGENETICS, 7 (2014) (međunarodna recenzija, članak, znanstveni)
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30.Evaluation of chromosomal mosaicism by aCGH and MLPA:molecular characterization of mosaic ring chromosome 22. // XII Russian Federation Congress “Modern technologies in pediatrics and pediatric surgery”, Moscow, Russia, 2013
Moskva, Ruska Federacija, 2013. (poster, međunarodna recenzija, sažetak, znanstveni) -
31.Heteromorphic variants of chromosome 9 // Molecular cytogenetics, 6 (2013), 14-1 doi:10.1186/1755-8166-6-14 (međunarodna recenzija, članak, znanstveni)
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32.Evaluation of chromosomal mosaicism by aCGH and MLPA: molecular characterization of mosaic ring chromosome 22 // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 71-71 (poster, međunarodna recenzija, sažetak, znanstveni) -
33.Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p? // Cytogenetic and genome research, 132 (2011), 1/2; 121-123 doi:10.1159/000316393 (međunarodna recenzija, kratko priopcenje, znanstveni)
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34.Genotoxicity assessment of soils near heavy traffic roads using native populations of earthworm Aporrectodea caliginosa // 2nd Young Environmental Scientists Meeting Environmental chalenges in the changing world
Aachen, 2011. str. 78-79 (predavanje, sažetak, znanstveni) -
35.Aporrectodea caliginosa, a suitable earthworm species for field based genotoxicity assessment? // Environmental pollution, 159 (2011), 4; 841-849 doi:10.1016/j.envpol.2011.01.009 (međunarodna recenzija, članak, znanstveni)
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36.Somatic mosaicism in cases with small supernumerary marker chromosomes // Current genomics, 11 (2010), 6; 432-439 doi:10.2174/138920210793176029 (međunarodna recenzija, članak, znanstveni)
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37.Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18 // Balkan journal of medical genetics, 13 (2010), 1; 55-58 doi:10.2478/v10034-010-0020-x (međunarodna recenzija, kratko priopcenje, znanstveni)
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38.Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis: a case report // Molecular Medicine Reports, 3 (2010), 571-574 doi:10.3892/mmr_00000299 (međunarodna recenzija, članak, znanstveni)
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39.Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact. // Medizinische Genetik / T. Grimm ; K. Zerres ; B. Horsthemke ; M. Speicher (ur.).
Heidelberg: Springer, 2010. str. 141-141 (poster, međunarodna recenzija, sažetak, znanstveni) -
40.DNA damage in earthworm coelomocytes after in vivo exposure to heavy metals and pentachlorophenol // EEMS 38th Annual Meeting / Franekić-Čolić, Jasna ; Garaj-Vrhovac, Vera (ur.).
Zagreb: Hrvatsko genetičko društvo, 2008. str. 240-240 (poster, domaća recenzija, sažetak, znanstveni)
