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Page 1
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.
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N, Fassad MR, Driessens C, Goggin P, Abdelrahman N, Adwan A, Albakri M, Chopra J, Doherty R, Fashho B, Freke GM, Hasaballah A, Jackson CL, Mohamed MA, Abu Nema R, Patel MP, Pengelly RJ, Qaaqour A, Rubbo B, Thomas NS, Thompson J, Walker WT, Wheway G, Mitchison HM, Lucas JS. Rumman N, et al. Among authors: thomas ns. ERJ Open Res. 2023 Apr 17;9(2):00714-2022. doi: 10.1183/23120541.00714-2022. eCollection 2023 Mar. ERJ Open Res. 2023. PMID: 37077557 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.
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.
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. Blood Adv. 2024 Mar 12;8(5):1209-1219. doi: 10.1182/bloodadvances.2023011152. Blood Adv. 2024. PMID: 38127279 Free PMC article.
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR, Chen X, Trump D, Lotery AJ. Self JE, et al. Among authors: thomas ns. Arch Ophthalmol. 2007 Sep;125(9):1255-63. doi: 10.1001/archopht.125.9.1255. Arch Ophthalmol. 2007. PMID: 17846367
265 results