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

Year Number of Results
2004 3
2005 1
2006 3
2008 1
2009 2
2010 3
2011 3
2012 5
2013 3
2014 4
2015 6
2016 2
2017 1
2018 2
2020 1
2021 3
2022 1
2023 3
2024 2

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Page 1
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: hime gr. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: hime gr. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Regulated nucleocytoplasmic transport during gametogenesis.
Miyamoto Y, Boag PR, Hime GR, Loveland KL. Miyamoto Y, et al. Among authors: hime gr. Biochim Biophys Acta. 2012 Jun;1819(6):616-30. doi: 10.1016/j.bbagrm.2012.01.015. Epub 2012 Feb 2. Biochim Biophys Acta. 2012. PMID: 22326858 Review.
Myc in stem cell behaviour: insights from Drosophila.
Quinn LM, Secombe J, Hime GR. Quinn LM, et al. Among authors: hime gr. Adv Exp Med Biol. 2013;786:269-85. doi: 10.1007/978-94-007-6621-1_15. Adv Exp Med Biol. 2013. PMID: 23696362 Review.
45 results