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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1981 1
2002 7
2003 3
2004 7
2005 11
2006 6
2007 12
2008 9
2009 3
2010 10
2011 6
2012 6
2013 9
2014 14
2015 14
2016 15
2017 23
2018 17
2019 25
2020 23
2021 12
2022 16
2023 13
2024 8

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249 results

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Page 1
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: dean j. Genet Med. 2024 Mar 7;26(6):101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print. Genet Med. 2024. PMID: 38465576 Free article.
Correction to: Forensic profiling of smokeless powders (SLPs) by gas chromatography-mass spectrometry (GC‑MS): a systematic investigation into injector conditions and their effect on the characterisation of samples.
Kesic B, McCann N, Bowerbank SL, Standley T, Liechti J, Dean JR, Gallidabino MD. Kesic B, et al. Among authors: dean jr. Anal Bioanal Chem. 2024 Apr;416(10):2581. doi: 10.1007/s00216-024-05218-8. Anal Bioanal Chem. 2024. PMID: 38448653 Free PMC article. No abstract available.
Forensic profiling of smokeless powders (SLPs) by gas chromatography-mass spectrometry (GC-MS): a systematic investigation into injector conditions and their effect on the characterisation of samples.
Kesic B, McCann N, Bowerbank SL, Standley T, Liechti J, Dean JR, Gallidabino MD. Kesic B, et al. Among authors: dean jr. Anal Bioanal Chem. 2024 Mar;416(8):1907-1922. doi: 10.1007/s00216-024-05189-w. Epub 2024 Feb 9. Anal Bioanal Chem. 2024. PMID: 38332189 Free PMC article.
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
249 results