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Year Number of Results
2015 1
2016 2
2017 2
2018 2
2019 3
2020 3
2021 5
2022 1970
2023 7245
2024 1877

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PubMed for id: 181981

9,577 results

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Page 1
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free 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. 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.
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Adams AD, et al. Genet Med. 2023 Sep;25(9):100358. doi: 10.1016/j.gim.2022.12.005. Epub 2023 Jul 20. Genet Med. 2023. PMID: 37470789
Brazilian guidelines for the pharmacological treatment of the pulmonary symptoms of cystic fibrosis. Official document of the Sociedade Brasileira de Pneumologia e Tisiologia (SBPT, Brazilian Thoracic Association).
Athanazio RA, Tanni SE, Ferreira J, Dalcin PTR, Fuccio MB, Esposito C, Canan MGM, Coelho LS, Firmida MC, Almeida MB, Marostica PJC, Monte LFV, Souza EL, Pinto LA, Rached SZ, Oliveira VSB, Riedi CA, Silva Filho LVRFD. Athanazio RA, et al. J Bras Pneumol. 2023 May 15;49(2):e20230040. doi: 10.36416/1806-3756/e20230040. eCollection 2023. J Bras Pneumol. 2023. PMID: 37194817 Free PMC article.
French recommendations for the diagnosis and management of lymphangioleiomyomatosis.
Cottin V, Blanchard E, Kerjouan M, Lazor R, Reynaud-Gaubert M, Taille C, Uzunhan Y, Wemeau L, Andrejak C, Baud D, Bonniaud P, Brillet PY, Calender A, Chalabreysse L, Court-Fortune I, Desbaillets NP, Ferretti G, Guillemot A, Hardelin L, Kambouchner M, Leclerc V, Lederlin M, Malinge MC, Mancel A, Marchand-Adam S, Maury JM, Naccache JM, Nasser M, Nunes H, Pagnoux G, Prévot G, Rousset-Jablonski C, Rouviere O, Si-Mohamed S, Touraine R, Traclet J, Turquier S, Vagnarelli S, Ahmad K; OrphaLung network. Cottin V, et al. Respir Med Res. 2023 Jun;83:101010. doi: 10.1016/j.resmer.2023.101010. Epub 2023 Mar 24. Respir Med Res. 2023. PMID: 37087906
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
Updated Management Guidelines for Adenosine Deaminase Deficiency.
Grunebaum E, Booth C, Cuvelier GDE, Loves R, Aiuti A, Kohn DB. Grunebaum E, et al. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1665-1675. doi: 10.1016/j.jaip.2023.01.032. Epub 2023 Feb 1. J Allergy Clin Immunol Pract. 2023. PMID: 36736952
9,577 results