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Sansović, Ivona; Barišić, Ingeborg; Morožin Pohovski, Leona; Odak, Ljubica; Vulin, Katarina
Nova missense varijanta u genu KIF1A kod bolesnice s NESCAV sindromom // Liječnički vjesnik : glasilo Hrvatskog liječničkog zbora. Suplement, 145, suppl 5. 2023. str. 205-205 |
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Murray, Aoife; Gough, Gillian; Cindrić, Ana; Vučković, Frano; Koschut, David; Borelli, Vincenzo; Petrović, Dražen J; Bekavac, Ana; Plećaš, Ante; Hribljan, Valentina et al.
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels // EBioMedicine, 94/2023 (2023), 104692; 1-26. doi: 10.1016/j.ebiom.2023.104692 |
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Mamasoula, Chrysovalanto ; Bigirumurame, Theophile ; Chadwick, Thomas ; Addor, Marie‐Claude ; Cavero‐ Carbonell, Clara ; Dias, Carlos M. ; Echevarría‐ González‐de‐Garibay, Luis‐Javier ; Gatt, Miriam ; Khoshnood, Babak ; Klungsoyr, Kari et al.
Maternal age and the prevalence of congenital heart defects in Europe, 1995–2015: A register‐ based study // Birth defects research, 115 (2023), 6; 583-594. doi: 10.1002/bdr2.2152 |
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Urhoj, Stine Kjaer ; Tan, Joachim ; Morris, Joan K. ; Given, Joanne ; Astolfi, Gianni ; Baldacci, Silvia ; Barisic, Ingeborg ; Brigden, Joanna ; Cavero-Carbonell, Clara ; Evans, Hannah et al.
Hospital length of stay among children with and without congenital anomalies across 11 European regions—A population-based data linkage study // PLoS One, 17 (2022), 7; 1-17. doi: 10.1371/journal.pone.0269874 |
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Mamasoula, Chrysovalanto ; Addor, Marie‐Claude ; Carbonell, Clara Cavero ; Dias, Carlos M. ; Echevarría‐González‐de‐Garibay, Luis‐Javier ; Gatt, Miriam ; Khoshnood, Babak ; Klungsoyr, Kari ; Randall, Kay ; Stoianova, Sylvia et al.
Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study // Birth defects research, 114 (2022), 20; 1404-1416. doi: 10.1002/bdr2.2117 |
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Tylki-Szymańska, Anna ; Almássy, Zsuzsanna ; Christophidou- Anastasiadou, Violetta ; Avdjieva- Tzavella, Daniela ; Barisic, Ingeborg ; Cerkauskiene, Rimante ; Cuturilo, Goran ; Djiordjevic, Maja ; Gucev, Zoran ; Hlavata, Anna et al.
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers // Orphanet journal of rare diseases, 17 (2022), 1; 136-152. doi: 10.1186/s13023-022-02285-x |
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Morris, Joan K. ; Wellesley, Diana ; Limb, Elizabeth ; Bergman, Jorieke E. H. ; Kinsner‐ Ovaskainen, Agnieszka ; Addor, Marie Claude ; Broughan, Jennifer M. ; Cavero‐Carbonell, Clara ; Dias, Carlos M. ; Echevarría‐González‐de‐Garibay, Luis‐Javier et al.
Prevalence of vascular disruption anomalies and association with young maternal age: A <scp>EUROCAT</scp> study to compare the United Kingdom with other European countries // Birth defects research, 114 (2022), 20; 1417-1426. doi: 10.1002/bdr2.2122 |
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Marcus, Elena ; Latos-Bielenska, Anna ; Jamry- Dziurla, Anna ; Barišić, Ingeborg ; Cavero- Carbonell, Clara ; Den Hond, Elly ; Garne, Ester ; Genard, Lucas ; Santos, Ana João ; Lutke, LRenée et al.
Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey // BMC Pediatrics, 22 (2022), 1; 1-13. doi: 10.1186/s12887-022-03734-z |
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Krnjak, Goran ; Vulin, Katarina ; Pazanin, Leo ; Barisic, Ingeborg ; Duranovic, Vlasta
A case of macrophagic myofasciitis in a girl with developmental delay // Pediatrics international, 64 (2022), 1; 35139249, 2. doi: 10.1111/ped.14930 |
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Cindrić, Ana ; Vučković, Frano ; Alić, Ivan ; Gough, Gillian ; Koschut, David ; Borelli, Vincenzo ; Petrović, Dražen ; Bekavac, Ana ; Spector, Tim ; Mitrečić, Dinko et al.
Down syndrome biological age is accelerated on average by 19 years, beginning in early childhood, independent of co-morbidities, and trisomy of Down-syndrome-critical-region is a sufficient trigger // T21RS 4th International conference Book of abstracts. 2022. str. 273-274 |
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