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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: martin h. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. Willatt L, et al. Among authors: martin h. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918153 Free PMC article.
Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP. Soh Z, et al. Among authors: martin h. Am J Med Genet A. 2024 Apr;194(4):e63480. doi: 10.1002/ajmg.a.63480. Epub 2023 Nov 19. Am J Med Genet A. 2024. PMID: 37982325
Genetic basis of early onset and progression of type 2 diabetes in South Asians.
Hodgson S, Williamson A, Bigossi M, Stow D, Jacobs BM, Samuel M, Gafton J, Zöllner J, Spreckley M; Genes & Health Research Team; Langenberg C, van Heel DA, Mathur R, Siddiqui MK, Finer S. Hodgson S, et al. Nat Med. 2024 Nov 26. doi: 10.1038/s41591-024-03317-8. Online ahead of print. Nat Med. 2024. PMID: 39592779
EFFECTIVENESS OF ZERO SURGICAL INFECTION PROJECT (ZSIP) IN SPANISH HOSPITALS 2017-2021. A PROSPECTIVE COHORT STUDY.
Navarro-Gracia JF, Gómez-Romero FJ, Lozano-García FJ, Ortí-Lucas R, Delgado-De Los Reyes JA, Fernández-Prada M, Herruzo-Cabrera R; ZSIP HOSPITAL COORDINATORS AND COLLABORATORS; INSTITUTIONAL COLLABORATORS. Navarro-Gracia JF, et al. J Hosp Infect. 2024 Nov 21:S0195-6701(24)00392-X. doi: 10.1016/j.jhin.2024.11.011. Online ahead of print. J Hosp Infect. 2024. PMID: 39579938
Altered IL-6 signalling and risk of tuberculosis: a multi-ancestry mendelian randomisation study.
Hamilton F, Schurz H, Yates TA, Gilchrist JJ, Möller M, Naranbhai V, Ghazal P, Timpson NJ; Genes & Health Research Team; International Tuberculosis Host Genetics Consortium; Parks T, Pollara G. Hamilton F, et al. Lancet Microbe. 2024 Nov 20:100922. doi: 10.1016/S2666-5247(24)00162-9. Online ahead of print. Lancet Microbe. 2024. PMID: 39579785 Free article.
SARS-CoV-2 evolution balances conflicting roles of N protein phosphorylation.
Syed AM, Ciling A, Chen IP, Carlson CR, Adly AN, Martin HS, Taha TY, Khalid MM, Price N, Bouhaddou M, Ummadi MR, Moen JM, Krogan NJ, Morgan DO, Ott M, Doudna JA. Syed AM, et al. Among authors: martin hs. PLoS Pathog. 2024 Nov 21;20(11):e1012741. doi: 10.1371/journal.ppat.1012741. Online ahead of print. PLoS Pathog. 2024. PMID: 39571001 Free article.
Examining the role of common variants in rare neurodevelopmental conditions.
Huang QQ, Wigdor EM, Malawsky DS, Campbell P, Samocha KE, Chundru VK, Danecek P, Lindsay S, Marchant T, Koko M, Amanat S, Bonfanti D, Sheridan E, Radford EJ, Barrett JC, Wright CF, Firth HV, Warrier V, Strudwick Young A, Hurles ME, Martin HC. Huang QQ, et al. Among authors: martin hc. Nature. 2024 Nov 20. doi: 10.1038/s41586-024-08217-y. Online ahead of print. Nature. 2024. PMID: 39567701
2,856 results