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

Year Number of Results
1990 1
1992 1
1994 3
1997 3
1998 4
1999 3
2000 4
2001 3
2002 2
2003 1
2004 2
2005 2
2006 4
2007 3
2008 3
2009 1
2010 2
2011 3
2012 1
2013 1
2014 2
2015 3
2016 1
2017 4
2018 4
2019 2
2020 2
2021 5
2022 8
2023 0
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66 results
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Page 1
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, Staples J, Magal N, Shuldiner AR, Mitchell BD, Nevo Y, Pollin TI, Gonzaga-Jauregui C, Basel-Salmon L. Salzer-Sheelo L, et al. Among authors: magal n. Eur J Neurol. 2022 Apr;29(4):1174-1180. doi: 10.1111/ene.15218. Epub 2022 Jan 7. Eur J Neurol. 2022. PMID: 34935254
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.
Sukenik-Halevy R, Perlman S, Ruhrman-Shahar N, Engel O, Orenstein N, Gonzaga-Jauregui C, Shuldiner AR; Regeneron Genetics Center; Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L, Basel-Salmon L. Sukenik-Halevy R, et al. Among authors: magal n. Prenat Diagn. 2022 May;42(6):717-724. doi: 10.1002/pd.6095. Epub 2022 Jan 24. Prenat Diagn. 2022. PMID: 35032046 Free PMC article.
66 results