Pregled po CROSBI profilu: Ingeborg Barišić (CROSBI Profil: 13659, MBZ: 168183)
Pronađeno 523 radova
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76.Dumić Kubat, Katja; Grubić, Zorana; Barišić, Ingeborg; Štingl, Katarina; Yuen, Tony; Wilson, Robert; Dumić, Miroslav; Škrabic, Veselin; Kušec, Vesna; I New, MariaMolekularno-genetička analiza gena CYP21A2 i korelacija genotipa i fenotipa u bolesnika s klasičnim oblikom kongenitalne adrenalne hiperplazije u Hrvatskoj // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. str. 100-101 (poster, domaća recenzija, sažetak, ostalo) -
77.Boban LjubicaKlinički i biološka obilježja rijetkih genetskih sindroma u europskoj populaciji, 2014., doktorska disertacija, Medicinski fakultet Sveučilišta u Zagrebu, Zagreb
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78.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) -
79.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) -
80.Luteijn, J.M.; Dolk, H.; Addor, M.C.; Arriola, L.; Barišić, Ingeborg; Bianchi, F.; Calzolari, E.; Draper, E.; Garne, E.; Gatt, M. et al.Seasonality of congenital anomalies in Europe // Birth defects research. Part A. Clinical and molecular teratology, 100 (2014), 4; 260-269 doi:10.1002/bdra.23231 (međunarodna recenzija, članak, znanstveni)
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81.Taruscio, D; Arriola, L; Baldi, F; Barišić, I; Bermejo-Sánchez, E; Bianchi, F; Calzolari, E; Carbone, P; Curran, R; Garne, E et al.European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans // Public Health Genomics, 17 (2014), 115-123 doi:10.1159/00036060 (podatak o recenziji nije dostupan, ostalo)
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82.Calzolari, E.; Barišić, Ingeborg; Loane, M.; Morris, J.; Wellesley, D.; Dolk, H.; Addor, M.C.; Arriola, L.; Bianchi, F.; Neville, A.J. et al.Epidemiology of multiple congenital anomalies in Europe : A EUROCAT population-based registry study // Birth defects research. Part A. Clinical and molecular teratology, 100 (2014), 4; 270-276 doi:10.1002/bdra.23240 (međunarodna recenzija, članak, znanstveni)
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83.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) -
84.Best, K.E.; Addor, M.C.; Arriola, L.; Balku, E.; Barišićc, Ingeborg; Bianchi, F.; Calzolari, E.; Curran, R.; Doray, B.; Draper, E. et al.Hirschsprung's disease prevalence in Europe : A register based study // Birth defects research. Part A. Clinical and molecular teratology, 100 (2014), 9; 695-702 doi:10.1002/bdra.23269 (međunarodna recenzija, članak, znanstveni)
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85.Primorac, Dragan; Antičević, Darko; Barišić, Ingeborg; Hudetz, Damir; Ivković, AlanOsteogenesis Imperfecta – Multi-Systemic and Life - Long Disease that Affects Whole Family // Collegium antropologicum, 38 (2014), 767-772 (međunarodna recenzija, članak, znanstveni)
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86.Morris, J.K.; Garne, E.; Wellesley, D.; Addor, M.C.; Arriola, L.; Barišić, Ingrborg; Beres, J.; Bianchi, F.; Budd, J.; Dias, C.M. et al.Major congenital anomalies in babies born with Down syndrome : A EUROCAT population-based registry study // American journal of medical genetics. Part A, 164 (2014), 12; 2979-2986 doi:10.1002/ajmg.a.36780 (međunarodna recenzija, članak, znanstveni)
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87.Barisic, I; Boban, L; Greenlees, R; Garne, E; Wellesley, D; Calzolari, E; Addor, MC; Arriola, L; Bergman, J; Braz, P et al.Holt Oram syndrome: a registry-based study in Europe // Orphanet Journal of Rare Disease, 9 (2014), 156-156 (podatak o recenziji nije dostupan, članak, ostalo)
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88.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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89.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) -
90.Sansović, Ivona; Dumić Kubat, Katja; Barišić, IngeborgMetoda višestrukog umnažanja vezanih sondi u dijagnostici kongenitalne adrenalne hiperplazije uzrokovane deficitom 21-hidroksilaze // PAEDIATRIA CROATICA, Vol. 58, Suppl 2 / Prof.dr.sc. Ingeborg Barišić, dr.med. (ur.).
Zagreb, 2014. str. 111-111 (poster, domaća recenzija, sažetak, stručni) -
91.Barišić, Ingeborg; Odak, Ljubica; Loane, M.; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke et al.Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe // European journal of human genetics, 22 (2014), 8; 1026-1033 doi:10.1038/ejhg.2013.287 (međunarodna recenzija, članak, znanstveni)
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92.Cohn, G.M.; Morin, I.; Whiteman, D.A.; ...; Barišič, Ingeborg; ...Development of a mnemonic screening tool for identifying subjects with Hunter syndrome // European journal of pediatrics, 172 (2013), 7; 965-970 doi:10.1007/s00431-013-1967-x (međunarodna recenzija, članak, znanstveni)
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93.Barišić IngeborgDijagnostički algoritam za dijete s razvojnim zaostajanjem // Pedijatrija danas 2013: neki dijagnostički i terapijski prijepori
Zagreb, Hrvatska: Medicinska naklada, 2013. str. 11-17 (predavanje, domaća recenzija, cjeloviti rad (in extenso), stručni) -
94.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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95.Barišić, Ingeborg; Morožin Pohovski, LeonaNovi mikrodelecijski sindromi // Paediatria Croatica, 57 (2013), 4; 400-407 (recenziran, članak, stručni)
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96.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) -
97.Luteijn, J.M.; Dolk, H.; Addor, M.C.; Arriola, L.; Bakker, M.; Barišić, Ingeborg; Bianchi, F.; Calzolari, E.; Draper, E.; Garne, E. et al.Seasonality of births and congenital anomalies in Europe // Birth defects research. Part A. Clinical and molecular teratology, 100 (2013), 4; 260-269 doi:10.1002/bdra.23231 (međunarodna recenzija, članak, znanstveni)
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98.Odak, Ljubica; Barišić, Ingeborg; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, HelenMeckel Gruber syndrome in Europe- population based study // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 253-253 (poster, međunarodna recenzija, sažetak, ostalo) -
99.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) -
100.Dumić Kubat, Katja; Morava, Eva; Barišić, IngeborgPatient with autosomal recessive cutis laxa type 2B due to PYCR1 gene mutation // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 244-244 (poster, međunarodna recenzija, sažetak, ostalo)
