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

Text availability

Article attribute

Article type

Publication date

Search Results

3,191 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: turner c. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Among authors: turner cl. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study. Aitken S, et al. Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607427 Free PMC article.
Streptococcus pyogenes carriage and infection within households in The Gambia: a longitudinal cohort study.
Armitage EP, de Crombrugghe G, Keeley AJ, Senghore E, Camara FE, Jammeh M, Bittaye A, Ceesay H, Ceesay I, Samateh B, Manneh M, Kampmann B, Turner CE, Kucharski A, Botteaux A, Smeesters PR, de Silva TI, Marks M; MRCG StrepA Study Group. Armitage EP, et al. Among authors: turner ce. Lancet Microbe. 2024 May 2:S2666-5247(24)00046-6. doi: 10.1016/S2666-5247(24)00046-6. Online ahead of print. Lancet Microbe. 2024. PMID: 38735305
Climate change, malaria and neglected tropical diseases: a scoping review.
Klepac P, Hsieh JL, Ducker CL, Assoum M, Booth M, Byrne I, Dodson S, Martin DL, Turner CMR, van Daalen KR, Abela B, Akamboe J, Alves F, Brooker SJ, Ciceri-Reynolds K, Cole J, Desjardins A, Drakeley C, Ediriweera DS, Ferguson NM, Gabrielli AF, Gahir J, Jain S, John MR, Juma E, Kanayson P, Deribe K, King JD, Kipingu AM, Kiware S, Kolaczinski J, Kulei WJ, Laizer TL, Lal V, Lowe R, Maige JS, Mayer S, McIver L, Mosser JF, Nicholls RS, Nunes-Alves C, Panjwani J, Parameswaran N, Polson K, Radoykova HS, Ramani A, Reimer LJ, Reynolds ZM, Ribeiro I, Robb A, Sanikullah KH, Smith DRM, Shirima GG, Shott JP, Tidman R, Tribe L, Turner J, Vaz Nery S, Velayudhan R, Warusavithana S, Wheeler HS, Yajima A, Abdilleh AR, Hounkpatin B, Wangmo D, Whitty CJM, Campbell-Lendrum D, Hollingsworth TD, Solomon AW, Fall IS. Klepac P, et al. Among authors: turner cmr. Trans R Soc Trop Med Hyg. 2024 May 10:trae026. doi: 10.1093/trstmh/trae026. Online ahead of print. Trans R Soc Trop Med Hyg. 2024. PMID: 38724044
Safety, tolerability, viral kinetics, and immune correlates of protection in healthy, seropositive UK adults inoculated with SARS-CoV-2: a single-centre, open-label, phase 1 controlled human infection study.
Jackson S, Marshall JL, Mawer A, Lopez-Ramon R, Harris SA, Satti I, Hughes E, Preston-Jones H, Cabrera Puig I, Longet S, Tipton T, Laidlaw S, Doherty RP, Morrison H, Mitchell R, Tanner R, Ateere A, Stylianou E, Wu MS, Fredsgaard-Jones TPW, Breuer J, Rapeport G, Ferreira VM, Gleeson F, Pollard AJ, Carroll M, Catchpole A, Chiu C, McShane H; COV-CHIM01 study team. Jackson S, et al. Lancet Microbe. 2024 Apr 26:S2666-5247(24)00025-9. doi: 10.1016/S2666-5247(24)00025-9. Online ahead of print. Lancet Microbe. 2024. PMID: 38703782 Free article.
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM, Dieriks BV, Murray HC, Swanson MEV, Yoo JH, Mehrabi NF, Turner C, Dragunow M, Faull RLM, Curtis MA, Siddique T, Shaw CE, Newell KL, Henden L, Williams KL, Nicholson GA, Scotter EL. Thumbadoo KM, et al. Among authors: turner c. Brain. 2024 May 4:awae140. doi: 10.1093/brain/awae140. Online ahead of print. Brain. 2024. PMID: 38703371
3,191 results