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

Year Number of Results
2003 4
2004 2
2005 1
2006 1
2007 1
2008 2
2009 3
2010 1
2014 1
2016 1
2017 2
2018 2
2019 2
2020 2
2021 2
2022 1
2024 0

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24 results

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Page 1
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L, Jimenez-Huezo G, Arguedas A, Leal A. Bermúdez-Guzmán L, et al. Among authors: leal a. PLoS One. 2020 Dec 17;15(12):e0237682. doi: 10.1371/journal.pone.0237682. eCollection 2020. PLoS One. 2020. PMID: 33332469 Free PMC article.
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: leal a. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
24 results