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Results by year

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

Year Number of Results
1978 1
1981 2
1982 1
1984 1
1986 1
1987 1
1989 1
1993 1
1995 1
1997 1
1999 1
2000 2
2001 3
2002 7
2003 3
2004 4
2005 1
2006 2
2007 4
2008 3
2009 1
2010 2
2011 3
2013 5
2014 4
2015 5
2016 3
2017 5
2018 3
2019 1
2020 1
2021 3
2022 9
2023 4
2024 1

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PubMed for id: 340051

82 results

Results by year

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Page 1
Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.
Liu X, Wen J, Liu X, Chen A, Li S, Liu J, Sun J, Gong W, Kang X, Feng Z, He C, Mei L, Ling J, Feng Y. Liu X, et al. PLoS One. 2023 Sep 14;18(9):e0288640. doi: 10.1371/journal.pone.0288640. eCollection 2023. PLoS One. 2023. PMID: 37708136 Free PMC article.
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, Amram D, Bellaiche ML, Abadie V, Parodi M, Denoyelle F, Hattersley A, Bole C, Lyonnet S, Marlin S. Chopra M, et al. Eur J Hum Genet. 2022 Aug;30(8):960-966. doi: 10.1038/s41431-022-01118-6. Epub 2022 May 20. Eur J Hum Genet. 2022. PMID: 35590056 Free PMC article.
82 results