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

Year Number of Results
1993 1
2002 2
2003 1
2004 1
2005 1
2008 1
2009 2
2010 7
2011 9
2012 4
2013 6
2014 6
2015 4
2016 2
2017 2
2018 1
2019 1
2020 2
2021 7
2022 4
2023 3
2024 1

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PubMed (RefSeq) for id: 1847916922

58 results

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Page 1
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E, Wiedmer T, Wang WA, Frommelt F, Steurer B, Klimek C, Lindinger S, Osthushenrich T, Garofoli A, Brocchetti S, Bradberry S, Huang J, MacNamara A, Scarabottolo L, Ecker GF, Malarstig A, Superti-Furga G. Ferrada E, et al. J Mol Biol. 2024 Jan 15;436(2):168383. doi: 10.1016/j.jmb.2023.168383. Epub 2023 Dec 7. J Mol Biol. 2024. PMID: 38070861 Free article.
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Velez-Tirado N, Yamazaki-Nakashimada MA, Lopez Valentín E, Partida-Gaytan A, Scheffler-Mendoza SC, Chaia Semerena GM, Alvarez-Cardona A, Suárez Gutiérrez MA, Medina Torres EA, Baeza Capetillo P, Hirschmugl T, Garncarz W, Espinosa-Padilla SE, Aguirre Hernández J, Klein C, Boztug K, Lugo Reyes SO. Velez-Tirado N, et al. Scand J Immunol. 2022 Apr;95(4):e13136. doi: 10.1111/sji.13136. Epub 2022 Jan 19. Scand J Immunol. 2022. PMID: 34964150 Free article.
58 results