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Chronic Overlapping Pain Conditions and Nociplastic Pain.
Johnston KJA, Signer R, Huckins LM. Johnston KJA, et al. Among authors: signer r. medRxiv [Preprint]. 2024 May 8:2023.06.27.23291959. doi: 10.1101/2023.06.27.23291959. medRxiv. 2024. PMID: 38766033 Free PMC article. Preprint.
Anti-ageing antibodies revive the immune system.
Kasu YAT, Signer RAJ. Kasu YAT, et al. Among authors: signer raj. Nature. 2024 Apr;628(8006):43-45. doi: 10.1038/d41586-024-00680-x. Nature. 2024. PMID: 38538888 No abstract available.
Common genetic variation impacts stress response in the brain.
Seah C, Signer R, Deans M, Bader H, Rusielewicz T, Hicks EM, Young H, Cote A, Townsley K, Xu C, Hunter CJ, McCarthy B, Goldberg J, Dobariya S, Holtzherimer PE, Young KA; NYSCF Global Stem Cell Array® Team; Traumatic Stress Brain Research Group; Noggle SA, Krystal JH, Paull D, Girgenti MJ, Yehuda R, Brennand KJ, Huckins LM. Seah C, et al. Among authors: signer r. bioRxiv [Preprint]. 2023 Dec 28:2023.12.27.573459. doi: 10.1101/2023.12.27.573459. bioRxiv. 2023. PMID: 38234801 Free PMC article. Preprint.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
Ringman JM, Dorrani N, Fernández SG, Signer R, Martinez-Agosto J, Lee H, Douine ED, Qiao Y, Shi Y, D'Orazio L, Pawar S, Robbie L, Kashani AH, Singer M, Byers JT, Magaki S, Guzman S, Sagare A, Zlokovic B, Cederbaum S, Nelson S, Sheikh-Bahaei N, Chui HC, Chávez-Gutiérrez L, Vinters HV. Ringman JM, et al. Among authors: signer r. Brain Commun. 2023 Feb 15;5(2):fcad030. doi: 10.1093/braincomms/fcad030. eCollection 2023. Brain Commun. 2023. PMID: 36895955 Free PMC article.
115 results