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

Year Number of Results
1989 2
1990 4
1991 1
1993 3
1994 1
1995 1
1996 2
1997 3
1998 4
2000 3
2001 6
2002 5
2003 5
2004 4
2005 4
2006 2
2007 4
2008 7
2009 5
2010 10
2011 4
2012 15
2013 13
2014 13
2015 13
2016 13
2017 10
2018 5
2019 6
2020 8
2021 3
2022 7
2023 5
2024 2

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171 results

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Page 1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
The EHA Research Roadmap: Platelet Disorders.
Balduini C, Freson K, Greinacher A, Gresele P, Kühne T, Scully M, Bakchoul T, Coppo P, Dovc Drnovsek T, Godeau B, Gruel Y, Rao AK, Kremer Hovinga JA, Makris M, Matzdorff A, Mumford A, Pecci A, Raslova H, Rivera J, Roberts I, Scharf RE, Semple JW, Van Geet C. Balduini C, et al. Among authors: van geet c. Hemasphere. 2021 Jun 30;5(7):e601. doi: 10.1097/HS9.0000000000000601. eCollection 2021 Jul. Hemasphere. 2021. PMID: 34476343 Free PMC article. No abstract available.
Dabigatran etexilate for the treatment of acute venous thromboembolism in children (DIVERSITY): a randomised, controlled, open-label, phase 2b/3, non-inferiority trial.
Halton J, Brandão LR, Luciani M, Bomgaars L, Chalmers E, Mitchell LG, Nurmeev I, Sharathkumar A, Svirin P, Gorbatikov K, Tartakovsky I, Simetzberger M, Huang F, Sun Z, Kreuzer J, Gropper S, Reilly P, Brueckmann M, Albisetti M; DIVERSITY Trial Investigators. Halton J, et al. Lancet Haematol. 2021 Jan;8(1):e22-e33. doi: 10.1016/S2352-3026(20)30368-9. Epub 2020 Dec 5. Lancet Haematol. 2021. PMID: 33290737 Clinical Trial.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Thrombopoiesis: new concepts.
van Geet C. van Geet C. Verh K Acad Geneeskd Belg. 2004;66(1):5-24; discussion 24-7. Verh K Acad Geneeskd Belg. 2004. PMID: 15074080 Review.
Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
Ver Donck F, Ramaekers K, Thys C, Van Laer C, Peerlinck K, Van Geet C, Eto K, Labarque V, Freson K. Ver Donck F, et al. Among authors: van geet c. Blood. 2023 May 4;141(18):2261-2274. doi: 10.1182/blood.2022017712. Blood. 2023. PMID: 36790527 Free PMC article.
Reye's syndrome.
Casteels-Van Daele M, Van Geet C, Wouters C, Eggermont E. Casteels-Van Daele M, et al. Among authors: van geet c. Lancet. 2001 Jul 28;358(9278):334. doi: 10.1016/S0140-6736(01)05512-X. Lancet. 2001. PMID: 11501538 No abstract available.
Platelet abnormalities in nephrotic syndrome.
Eneman B, Levtchenko E, van den Heuvel B, Van Geet C, Freson K. Eneman B, et al. Among authors: van geet c. Pediatr Nephrol. 2016 Aug;31(8):1267-79. doi: 10.1007/s00467-015-3173-8. Epub 2015 Aug 13. Pediatr Nephrol. 2016. PMID: 26267676 Review.
Clinical practice: immune thrombocytopenia in paediatrics.
Labarque V, Van Geet C. Labarque V, et al. Among authors: van geet c. Eur J Pediatr. 2014 Feb;173(2):163-72. doi: 10.1007/s00431-013-2254-6. Epub 2014 Jan 5. Eur J Pediatr. 2014. PMID: 24390128 Review.
171 results