Pregled po CROSBI profilu: Leona Morožin Pohovski (CROSBI Profil: 22012, MBZ: 261772)
Pronađeno 47 radova
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1.Vulin, Katarina; Odak, Ljubica; Morožin Pohovski, Leona; Đaković, Ivana; Tripalo Batoš, Ana; Meašić, Ana-Maria; Kero, Mijana; Sansović, Ivona; Bobinec, Adrana; Barišić, IngeborgChromosomal microarray in clinical diagnosis of cerebral palsy // Journal of Bioanthropology ; vol.2, no.1, 2022. Program and abstracts: The Twelfth ISABS Conference on Forensic and Anthropological Genetics and Mayo Clinic Lectures in Individualized Medicine ; June 22-27, 2022, Dubrovnik, Croatia. / Marjanović, D (ur.).
Zagreb: Institut za antropologiju, 2022. str. 308-308 doi:10.54062/jb (predavanje, međunarodna recenzija, sažetak, znanstveni) -
2.Morozin Pohovski, Leona; Bobinec, Adriana; Measic, Ana-Maria; Sansovic, Ivona; Barisic, IngeborgA new case of intragenic deletion of the TCF4 gene without features of Pitt-Hopkins syndrome // Molecular and experimental biology in medicine, 3 (2020), 2; 56-58 doi:10.33602/mebm.3.2.8 (recenziran, članak, stručni)
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3.Morožin Pohovski, Leona; Barišić, IngeborgMultiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities. // Folia medica Facultatis medicinae Universitatis Saraeviensis, 49 (2014), 1; 15-21 (podatak o recenziji nije dostupan, pregledni rad, ostalo)
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4.Kero, Mijana; Morožin-Pohovski, Leona; Čače, Neven; Barišić, IngeborgSindrom Kleefstra: prikaz bolesnika s asimetričnom hipetrofičnom kardiomiopatijom // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. str. 106-107 (poster, domaća recenzija, sažetak, znanstveni) -
5.Morožin Pohovski, Leona; Barišić, Ingeborg; Riegel, Mariluce; Schinzel, AlbertMolekularna karakterizacija prstenastog kromosoma 9 primjenom tehnike komparativne genomske hibridizacije na mikropostroju // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. (poster, domaća recenzija, sažetak, znanstveni) -
6.Morožin Pohovski, L; Barišić, IIdentification of microdeletion 8q23.3q24.11 by MLPA in patient with multiple hereditary exostoses // European journal of human genetics Supplement 1
Milano, Italija: Nature Publishing Group, 2014. str. 447-448 (poster, međunarodna recenzija, sažetak, znanstveni) -
7.Sansović, I; Morožin Pohovski, L; Barišić, IMicroduplication of Xp22.31 region involving the STS gene in two males with intellectual disability // European journal of human genetics
Milano, Italija: Nature Publishing Group, 2014. str. 163-164 (poster, međunarodna recenzija, sažetak, znanstveni) -
8.Morožin-Pohovski, L; Barišić, I:Multiple ligation-dependent proble amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities // Folia Medica Facultatis Medicinae Universitatis Saraeviensis
Sarajevo, 2014. str. 15-21 (predavanje, cjeloviti rad (in extenso), ostalo) -
9.Zergollern-Čupak, Ljiljana; Barišić, Ingeborg; Morožin-Pohovski, LeonaDevelopment of genetics in the world and in Croatia – forty years of the Croatian Society of Human Genetics of the Croatian Medical Association // Collegium antropologicum, 38 (2014), 3; 809-818 (podatak o recenziji nije dostupan, ostalo)
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10.Sansović, Ivona; Morožin Pohovski, Leona; Barišić, IngeborgMicroduplication of Xp22.31 region involving the STS gene in two males with intellectual disability // European Journal of Human Genetics, Volume 22, Supplement 1, May 2014 / G-J B van Ommen (ur.).
Milano, Italija: Nature Publishing Group, 2014. str. 163-164 (poster, međunarodna recenzija, sažetak, znanstveni) -
11.Odak, Ljubica; Morožin-Pohovski, Leona; Barišić, IngeborgMikrodelecija 17q21.31- prikaz dvaju bolesnika // Paediatria Croatica, 57 (2013), 1; 45-48 (recenziran, članak, stručni)
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12.Barišić, Ingeborg; Morožin Pohovski, LeonaNovi mikrodelecijski sindromi // Paediatria Croatica, 57 (2013), 4; 400-407 (recenziran, članak, stručni)
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13.Morožin Pohovski; Leona; Barišić, IngeborgMicrodeletion syndromes: copy number aberrations in patients with developmental delay/intellectual disability detected by MLPA // Chromosome Research. Supplement 1
Dublin, Irska, 2013. str. 66-67 (poster, međunarodna recenzija, sažetak, ostalo) -
14.Morožin Pohovski, Leona; Barišić, IngeborgDetection of subtelomeric copy number aberrations in patients with developmental delay/intellectual disability by MLPA // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 290-290 (poster, međunarodna recenzija, sažetak, ostalo) -
15.Morožin Pohovski, LeonaMeđunarodni sustav nomenklature u humanoj citogenetici – ISCN 2013 // Paediatria Croatica, 57 (2013), 4; 387-391 (recenziran, članak, stručni)
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16.Morožin Pohovski, Leona; Barišić, IngeborgProbir mikrodelecijskih/mikroduplikacijskih sindroma tehnikom višestrukog umnožavanja vezanih sondi (MLPA) // Paediatria Croatica
Zagreb, Hrvatska, 2013. str. 301-301 (predavanje, domaća recenzija, sažetak, ostalo) -
17.Kero, Mijana; Morožin Pohovski, Leona; Sansović, Ivona; Odak, Ljubica; Dumić, Katja; Barišić, IngeborgCongenital anomalies in patients with submicroscopic chromosome abnormalities // Book of abstracts of 12th European Symposium on Congenital Anomalies
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 69-69 (poster, međunarodna recenzija, sažetak, ostalo) -
18.Morožin-Pohovski, Leona; Dumić Kubat, Katja, Odak, Ljubica; Barišić, IngeborgMultiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability // Molecular cytogenetics, 6 (2013), 1; 7-7 (međunarodna recenzija, članak, znanstveni)
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19.Morožin Pohovski, Leona; Barišić, IngeborgMLPA as screening method in detection of submicroscopic rearrangements detected in patients with developmental delay/intellectual disability // European Journal of Human Genetics
Nürnberg, Njemačka: Nature Publishing Group, 2012. str. 123-123 (poster, međunarodna recenzija, sažetak, ostalo) -
20.Barišić, Ingeborg; Dumić Kubat, Katja; Morožin Pohovski, Leona; Petković, Iskra; Riegel M, Schinzel, AlbertArray CGH characterisation of ring chromosome 9 formation due to inverted duplication and terminal deletion in a patient with sex- reversal // European Journal of Human Genetics
Nürnberg, Njemačka, 2012. str. 127-127 (poster, međunarodna recenzija, sažetak, ostalo) -
21.Morožin Pohovski, Leona; Barišić, IngeborgProbir aberacija subtelomera i mikrodelecijskih sindroma u bolesnika s razvojnim /intelektualnim smetnjama metodom MLPA // Paediatria Croatica, 56 (2012), 2; 18-21 (međunarodna recenzija, članak, znanstveni)
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22.Morožin Pohovski, LeonaProbir aberantnih subtelomera u dijagnostici razvojnog zaostajanja/mentalne retardacije primjenom metode višestrukog umnožavanja vezanih sondi (MLPA), 2011., doktorska disertacija, Prirodoslovno-matematički fakultet, Biološki odsjek, Zagreb
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23.Morožin Pohovski, Leona; Barišić, IngeborgScreening of patients with mental retardation using subtelomeric MLPA assay // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: SABS – International Society for Applied Biological Sciences, 2011. str. 258-258 (predavanje, međunarodna recenzija, sažetak, stručni) -
24.Dumić, Katja; Morožin-Pohovski, Leona; Barišić, IngeborgDuplication of pseudoautosomal region 1 and SHOX gene could be linked with characteristic phenotype // Europan Journal of Human Genetics. Supplement 2
Amsterdam: Nature Publishing Group, 2011. str. 121-121 (poster, međunarodna recenzija, sažetak, ostalo) -
25.Odak, Ljubica; Barišić, Ingeborg; Morožin Pohovski, Leona; Riegel, Mariluce; Schinzel, AlbertA novel de novo dir dup (16) (q12.1-q21) in a girl with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report and review of the literature // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 295-295 (poster, međunarodna recenzija, sažetak, stručni)
