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3,467 results

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Ibrutinib as first-line therapy for mantle cell lymphoma: a multicenter, real-world UK study.
Tivey A, Shotton R, Eyre TA, Lewis D, Stanton L, Allchin R, Walter H, Miall F, Zhao R, Santarsieri A, McCulloch R, Bishton M, Beech A, Willimott V, Fowler N, Bedford C, Goddard J, Protheroe S, Everden A, Tucker D, Wright J, Dukka V, Reeve M, Paneesha S, Prahladan M, Hodson A, Qureshi I, Koppana M, Owen M, Ediriwickrema K, Marr H, Wilson J, Lambert J, Wrench D, Burney C, Knott C, Talbot G, Gibb A, Lord A, Jackson B, Stern S, Sutton T, Webb A, Wilson M, Thomas N, Norman J, Davies E, Lowry L, Maddox J, Phillips N, Crosbie N, Flont M, Nga E, Virchis A, Camacho RG, Swe W, Pillai A, Rees C, Bailey J, Jones S, Smith S, Sharpley F, Hildyard C, Mohamedbhai S, Nicholson T, Moule S, Chaturvedi A, Linton K. Tivey A, et al. Among authors: thomas n. Blood Adv. 2024 Mar 12;8(5):1209-1219. doi: 10.1182/bloodadvances.2023011152. Blood Adv. 2024. PMID: 38127279 Free PMC article.
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Buonocore F, et al. Among authors: thomas ns. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1. J Endocr Soc. 2021. PMID: 34258490 Free PMC article.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E; Genomics England Research Consortium; Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS. Devlin LA, et al. Among authors: thomas ns. Clin Genet. 2023 Mar;103(3):330-334. doi: 10.1111/cge.14251. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36273371 Free PMC article.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. Among authors: thomas ns. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG, Thomas NS, Hunt D, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: thomas ns. medRxiv [Preprint]. 2023 Feb 1:2023.01.31.23285025. doi: 10.1101/2023.01.31.23285025. medRxiv. 2023. Update in: Healthcare (Basel). 2023 Dec 15;11(24):3179. doi: 10.3390/healthcare11243179. PMID: 36778464 Free PMC article. Updated. Preprint.
Thyrotoxic periodic paralysis-A retrospective study from southern India.
Paul J, Joseph A, Jebasingh F, More AR, Hephzibah J, Cherian KE, Kapoor N, Asha HS, Thomas N. Paul J, et al. Among authors: thomas n. Eur Thyroid J. 2024 Oct 1:ETJ-24-0164. doi: 10.1530/ETJ-24-0164. Online ahead of print. Eur Thyroid J. 2024. PMID: 39400601
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs AM, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT. Watts LM, et al. Among authors: thomas ns. Brain Commun. 2024 Sep 25;6(5):fcae330. doi: 10.1093/braincomms/fcae330. eCollection 2024. Brain Commun. 2024. PMID: 39386087 Free PMC article. No abstract available.
3,467 results