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Page 1
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, Knapkova M, Kocova M, Kotori V, Kozich V, Kremezna A, Kurkijärvi R, La Marca G, Mikelsaar R, Milenkovic T, Mitkin V, Moldovanu F, Ceglarek U, O'Grady L, Oltarzewski M, Pettersen RD, Ramadza D, Salimbayeva D, Samardzic M, Shamsiddinova M, Songailiené J, Szatmari I, Tabatadze N, Tezel B, Toromanovic A, Tovmasyan I, Usurelu N, Vevere P, Vilarinho L, Vogazianos M, Yahyaoui R, Zeyda M, Schielen PCJI. Loeber JG, et al. Among authors: kotori v. Int J Neonatal Screen. 2021 Mar 5;7(1):15. doi: 10.3390/ijns7010015. Int J Neonatal Screen. 2021. PMID: 33808002 Free PMC article.
Newborn screening in southeastern Europe.
Groselj U, Tansek MZ, Smon A, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori VM, Maksic H, Marginean O, Margineanu O, Milijanovic O, Moldovanu F, Muresan M, Murko S, Nanu M, Lampret BR, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Groselj U, et al. Among authors: kotori vm. Mol Genet Metab. 2014 Sep-Oct;113(1-2):42-5. doi: 10.1016/j.ymgme.2014.07.020. Epub 2014 Aug 1. Mol Genet Metab. 2014. PMID: 25174966
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium; Ferrer J, Hattersley AT, Ellard S. Allen HL, et al. Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035. Nat Genet. 2011. PMID: 22158542 Free PMC article.
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.
Marusic T, Sustar U, Sadiq F, Kotori V, Mlinaric M, Kovac J, Shafi S, Khan I, Cevc M, Trebusak Podkrajsek K, Battelino T, Groselj U. Marusic T, et al. Among authors: kotori v. Front Genet. 2020 Sep 11;11:572176. doi: 10.3389/fgene.2020.572176. eCollection 2020. Front Genet. 2020. PMID: 33093846 Free PMC article.
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Zerjav Tansek M, et al. Among authors: kotori v. Orphanet J Rare Dis. 2015 May 30;10:68. doi: 10.1186/s13023-015-0283-0. Orphanet J Rare Dis. 2015. PMID: 26025111 Free PMC article.