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Results by year

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

Year Number of Results
1993 2
1994 1
1996 1
1997 2
1998 4
1999 4
2000 5
2001 4
2002 5
2003 2
2004 2
2005 4
2006 1
2007 4
2008 1
2009 1
2010 2
2011 2
2012 3
2013 3
2014 6
2015 5
2016 2
2017 8
2018 6
2019 5
2020 10
2021 8
2022 5
2023 6
2024 3

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PubMed (RefSeq) for id: 2217306250

103 results

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Page 1
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T. Radenkovic S, et al. Cell Rep. 2024 Mar 26;43(3):113883. doi: 10.1016/j.celrep.2024.113883. Epub 2024 Mar 1. Cell Rep. 2024. PMID: 38430517 Free article.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R, Serrano M. Epifani F, et al. Sci Rep. 2023 Dec 20;13(1):22783. doi: 10.1038/s41598-023-49518-y. Sci Rep. 2023. PMID: 38129426 Free PMC article.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ. Kiparissi F, et al. Hum Genet. 2023 May;142(5):697-704. doi: 10.1007/s00439-023-02523-7. Epub 2023 Feb 11. Hum Genet. 2023. PMID: 36773065 Free PMC article.
103 results