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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
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D'Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators. Mulder JWCM, et al. JAMA Cardiol. 2024 Apr 1;9(4):313-322. doi: 10.1001/jamacardio.2023.5597. JAMA Cardiol. 2024. PMID: 38353972
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Štajer K, Kovač N, Šikonja J, Mlinarič M, Bertok S, Brecelj J, Debeljak M, Kovač J, Markelj G, Neubauer D, Rus R, Žerjav Tanšek M, Drole Torkar A, Zver A, Battelino T, Jiménez Torres R, Grošelj U. Štajer K, et al. Among authors: groselj u. Mol Genet Metab Rep. 2023 Jun 19;36:100986. doi: 10.1016/j.ymgmr.2023.100986. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670898 Free PMC 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.
Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study.
Sadiq F, Shafi S, Sikonja J, Khan M, Ain Q, Khan MI, Rehman H, Mlinaric M, Gidding SS, Groselj U; PAKISTAN Familial Hypercholesterolemia Collaborators. Sadiq F, et al. Among authors: groselj u. Lancet Reg Health Southeast Asia. 2023 Feb 20;12:100163. doi: 10.1016/j.lansea.2023.100163. eCollection 2023 May. Lancet Reg Health Southeast Asia. 2023. PMID: 37384054 Free PMC article.
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.
Molk N, Bitenc M, Urlep D, Zerjav Tansek M, Bertok S, Trebusak Podkrajsek K, Sustar U, Kovac J, Battelino T, Debeljak M, Groselj U. Molk N, et al. Among authors: groselj u. Front Med (Lausanne). 2023 Jun 13;10:1106441. doi: 10.3389/fmed.2023.1106441. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37384046 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.
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U. Saho R, et al. Among authors: groselj u. Front Endocrinol (Lausanne). 2023 Mar 17;14:1134133. doi: 10.3389/fendo.2023.1134133. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008950 Free PMC article.
87 results