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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 3
2013 2
2014 7
2015 5
2016 3
2017 2
2018 6
2019 2
2020 17
2021 18
2022 17
2023 12
2024 2

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87 results

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Page 1
Universal screening for familial hypercholesterolemia in 2 populations.
Sustar U, Kordonouri O, Mlinaric M, Kovac J, Arens S, Sedej K, Jenko Bizjan B, Trebusak Podkrajsek K, Danne T, Battelino T, Groselj U. Sustar U, et al. Among authors: groselj u. Genet Med. 2022 Oct;24(10):2103-2111. doi: 10.1016/j.gim.2022.06.010. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35913489 Free article.
Editorial: Rare dyslipidemias.
Sadiq F, Hegele RA, Catapano AL, Groselj U. Sadiq F, et al. Among authors: groselj u. Front Genet. 2023 Jul 17;14:1248435. doi: 10.3389/fgene.2023.1248435. eCollection 2023. Front Genet. 2023. PMID: 37529775 Free PMC article. No abstract available.
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Gentner B, et al. N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. N Engl J Med. 2021. PMID: 34788506 Clinical Trial.
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Tromp TR, et al. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28. Lancet. 2022. PMID: 35101175 Free PMC article.
Newborn Screening in a Pandemic-Lessons Learned.
Mlinaric M, Bonham JR, Kožich V, Kölker S, Majek O, Battelino T, Torkar AD, Koracin V, Perko D, Remec ZI, Lampret BR, Scarpa M, Schielen PCJI, Zetterström RH, Groselj U. Mlinaric M, et al. Among authors: groselj u. Int J Neonatal Screen. 2023 Apr 11;9(2):21. doi: 10.3390/ijns9020021. Int J Neonatal Screen. 2023. PMID: 37092515 Free PMC article. Review.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Sikonja J, et al. Among authors: groselj u. Int J Neonatal Screen. 2022 May 6;8(2):31. doi: 10.3390/ijns8020031. Int J Neonatal Screen. 2022. PMID: 35645285 Free PMC article. Review.
Next-Generation Sequencing in Newborn Screening: A Review of Current State.
Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, Kovac J, Groselj U, Tesovnik T, Battelino T, Debeljak M. Remec ZI, et al. Among authors: groselj u. Front Genet. 2021 May 26;12:662254. doi: 10.3389/fgene.2021.662254. eCollection 2021. Front Genet. 2021. PMID: 34122514 Free PMC article. Review.
The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.
Bedlington N, Abifadel M, Beger B, Bourbon M, Bueno H, Ceska R, Cillíková K, Cimická Z, Daccord M, de Beaufort C, Dharmayat KI, Ference BA, Freiberger T, Geanta M, Gidding SS, Grošelj U, Halle M, Johnson N, Novakovic T, Májek O, Pallidis A, Peretti N, Pinto FJ, Ray KK, Rees B, Reeve J, Reiner Ž, Santos RD, Schunkert H, Šikonja J, Sokolovic M, Tokgözoglu L, Vrablík M, Wiegman A, Gutiérrez-Ibarluzea I. Bedlington N, et al. Among authors: groselj u. GMS Health Innov Technol. 2022 Sep 30;16:Doc04. doi: 10.3205/hta000136. eCollection 2022. GMS Health Innov Technol. 2022. PMID: 36311985 Free PMC article. Review.
87 results