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2023 12
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104 results

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Page 1
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.
DFV890: a new oral NLRP3 inhibitor-tested in an early phase 2a randomised clinical trial in patients with COVID-19 pneumonia and impaired respiratory function.
Madurka I, Vishnevsky A, Soriano JB, Gans SJ, Ore DJS, Rendon A, Ulrik CS, Bhatnagar S, Krishnamurthy S, Mc Harry K, Welte T, Fernandez AA, Mehes B, Meiser K, Gatlik E, Sommer U, Junge G, Rezende E; Study group. Madurka I, et al. Infection. 2023 Jun;51(3):641-654. doi: 10.1007/s15010-022-01904-w. Epub 2022 Sep 14. Infection. 2023. PMID: 36104613 Free PMC article. Clinical Trial.
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
Author`s Reply.
Sağ S. Sağ S. Anatol J Cardiol. 2017 Feb;17(2):159-160. Anatol J Cardiol. 2017. PMID: 28209933 Free PMC article. No abstract available.
[Management of multivalvular heart disease].
Sağ S, Güllülü S. Sağ S, et al. Turk Kardiyol Dern Ars. 2014 Oct;42(7):675-84. doi: 10.5543/tkda.2014.67179. Turk Kardiyol Dern Ars. 2014. PMID: 25490306 Free article. Review. Turkish.
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI; MarmaRare Group; Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. Kim AH, et al. Among authors: sag so. Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. Print 2024 Oct. Life Sci Alliance. 2024. PMID: 39168639 Free PMC article.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galván NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: sag so. Genet Med. 2024 Jul;26(7):101125. doi: 10.1016/j.gim.2024.101125. Epub 2024 Mar 21. Genet Med. 2024. PMID: 38522068
Acquired noncaustic esophageal strictures in children.
Sag E, Bahadir A, Imamoglu M, Sag S, Reis GP, Erduran E, Cakir M. Sag E, et al. Among authors: sag s. Clin Exp Pediatr. 2020 Nov;63(11):447-450. doi: 10.3345/cep.2020.00199. Epub 2020 Oct 15. Clin Exp Pediatr. 2020. PMID: 33137248 Free PMC article.
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.
Ozcelik F, Dundar MS, Yildirim AB, Henehan G, Vicente O, Sánchez-Alcázar JA, Gokce N, Yildirim DT, Bingol NN, Karanfilska DP, Bertelli M, Pojskic L, Ercan M, Kellermayer M, Sahin IO, Greiner-Tollersrud OK, Tan B, Martin D, Marks R, Prakash S, Yakubi M, Beccari T, Lal R, Temel SG, Fournier I, Ergoren MC, Mechler A, Salzet M, Maffia M, Danalev D, Sun Q, Nei L, Matulis D, Tapaloaga D, Janecke A, Bown J, Cruz KS, Radecka I, Ozturk C, Nalbantoglu OU, Sag SO, Ko K, Arngrimsson R, Belo I, Akalin H, Dundar M. Ozcelik F, et al. Among authors: sag so. Funct Integr Genomics. 2024 Aug 16;24(4):138. doi: 10.1007/s10142-024-01417-9. Funct Integr Genomics. 2024. PMID: 39147901 Review.
104 results