Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1999 1
2002 9
2003 5
2004 5
2005 8
2006 10
2007 5
2008 8
2009 8
2010 6
2011 11
2012 3
2013 11
2014 9
2015 7
2016 8
2017 10
2018 13
2019 12
2020 15
2021 10
2022 15
2023 14
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

181 results

Results by year

Filters applied: . Clear all
Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association. Trautmann A, et al. Among authors: christian m. Pediatr Nephrol. 2023 Mar;38(3):877-919. doi: 10.1007/s00467-022-05739-3. Epub 2022 Oct 21. Pediatr Nephrol. 2023. PMID: 36269406 Free PMC article. Review.
Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study.
Charlier C, Perrodeau É, Leclercq A, Cazenave B, Pilmis B, Henry B, Lopes A, Maury MM, Moura A, Goffinet F, Dieye HB, Thouvenot P, Ungeheuer MN, Tourdjman M, Goulet V, de Valk H, Lortholary O, Ravaud P, Lecuit M; MONALISA study group. Charlier C, et al. Lancet Infect Dis. 2017 May;17(5):510-519. doi: 10.1016/S1473-3099(16)30521-7. Epub 2017 Jan 28. Lancet Infect Dis. 2017. PMID: 28139432 Free 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.
Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical Trial.
Christian MT, Webb NJA, Mehta S, Woolley RL, Afentou N, Frew E, Brettell EA, Khan AR, Milford DV, Bockenhauer D, Saleem MA, Hall AS, Koziell A, Maxwell H, Hegde S, Prajapati H, Gilbert RD, Jones C, McKeever K, Cook W, Ives N. Christian MT, et al. JAMA Pediatr. 2022 Mar 1;176(3):236-243. doi: 10.1001/jamapediatrics.2021.5189. JAMA Pediatr. 2022. PMID: 34928294 Free PMC article. 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.
Abecedarium: Who am I? X'….
Laccourreye O, Werner A, McGill I, Martin C. Laccourreye O, et al. Among authors: martin c. Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Feb;134(1):1-2. doi: 10.1016/j.anorl.2015.05.001. Epub 2015 Jun 1. Eur Ann Otorhinolaryngol Head Neck Dis. 2017. PMID: 26043816 Free article. No abstract available.
C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes.
Wong EKS, Marchbank KJ, Lomax-Browne H, Pappworth IY, Denton H, Cooke K, Ward S, McLoughlin AC, Richardson G, Wilson V, Harris CL, Morgan BP, Hakobyan S, McAlinden P, Gale DP, Maxwell H, Christian M, Malcomson R, Goodship THJ, Marks SD, Pickering MC, Kavanagh D, Cook HT, Johnson SA; MPGN/DDD/C3 Glomerulopathy Rare Disease Group and National Study of MPGN/DDD/C3 Glomerulopathy Investigators. Wong EKS, et al. Among authors: christian m. Clin J Am Soc Nephrol. 2021 Nov;16(11):1639-1651. doi: 10.2215/CJN.00320121. Epub 2021 Sep 22. Clin J Am Soc Nephrol. 2021. PMID: 34551983 Free PMC article.
Bile salt hydrolase acyltransferase activity expands bile acid diversity.
Guzior DV, Okros M, Shivel M, Armwald B, Bridges C, Fu Y, Martin C, Schilmiller AL, Miller WM, Ziegler KM, Sims MD, Maddens ME, Graham SF, Hausinger RP, Quinn RA. Guzior DV, et al. Among authors: martin c. Nature. 2024 Feb;626(8000):852-858. doi: 10.1038/s41586-024-07017-8. Epub 2024 Feb 7. Nature. 2024. PMID: 38326608
181 results