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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: smith k. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
Keratoconus in a patient with B3GALT6-related disorder.
Descartes M, Melenevsky YV, Rudy N, Smith K, Callaway K, Parker JS. Descartes M, et al. Among authors: smith k. Clin Genet. 2021 Jun;99(6):849-850. doi: 10.1111/cge.13940. Epub 2021 Feb 25. Clin Genet. 2021. PMID: 33631843 No abstract available.
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: smith k. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: smith w, smith k, smith acm. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ. Sörmann J, et al. Among authors: smith k. Nat Genet. 2022 Oct;54(10):1534-1543. doi: 10.1038/s41588-022-01185-x. Epub 2022 Oct 4. Nat Genet. 2022. PMID: 36195757 Free PMC article.
In Science Journals.
Maroso M, Smith KT, Stajic J, Smith HJ, Yeston JS, Ash C, Shilatifard A, Charneski C, Nusinovich Y, Szuromi P, Vignieri S, Ferrarelli LK, Olingy C. Maroso M, et al. Among authors: smith kt. Science. 2024 May 10;384(6696):632-634. doi: 10.1126/science.adq2871. Epub 2024 May 9. Science. 2024. PMID: 38723087
Correction: Identifying areas of Australia with high out-of-hospital cardiac arrest incidence and low bystander cardiopulmonary resuscitation rates: A retrospective, observational study.
Doan T, Howell S, Ball S, Finn J, Cameron P, Bosley E, Dicker B, Faddy S, Nehme Z, Heriot N, Swain A, Thorrowgood M, Thomas A, Perillo S, McDermott M, Smith T, Smith K, Belcher J, Bray J; Aus-ROC OHCA Epistry Management Committee. Doan T, et al. Among authors: smith k. PLoS One. 2024 May 9;19(5):e0303681. doi: 10.1371/journal.pone.0303681. eCollection 2024. PLoS One. 2024. PMID: 38722859 Free PMC article.
Mitochondria regulate proliferation in adult cardiac myocytes.
Waypa GB, Smith KA, Mungai PT, Dudley VJ, Helmin KA, Singer BD, Peek CB, Bass J, Beussink-Nelson L, Shah SJ, Ofman G, Wasserstrom JA, Muller WA, Misharin AV, Budinger GRS, Abdala-Valencia H, Chandel NS, Dokic D, Bartom ET, Zhang S, Tatekoshi Y, Mahmoodzadeh A, Ardehali H, Thorp EB, Schumacker PT. Waypa GB, et al. Among authors: smith ka. J Clin Invest. 2024 May 9:e165482. doi: 10.1172/JCI165482. Online ahead of print. J Clin Invest. 2024. PMID: 38722697 Free article.
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