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

Year Number of Results
1988 1
1991 1
1992 1
1994 2
1995 1
1996 5
1997 5
1998 5
1999 2
2000 2
2001 5
2002 4
2003 4
2004 3
2005 3
2006 4
2007 4
2008 11
2009 9
2010 9
2011 10
2012 9
2013 15
2014 16
2015 13
2016 12
2017 9
2018 12
2019 9
2020 8
2021 13
2022 9
2023 5
2024 10
2025 9
2026 0

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213 results

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Page 1
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.
Ezer S, Sido T, Rips J, Hoffman Lipschuetz R, Fuchs A, Abu-Libdeh B, Chervinsky E, Damseh NS, Danial-Farran N, Morani I, Saada A, Al-Raqad M, Salah S, Yanovsky-Dagan S, Samra N, Mandel H, Shalev SA, Mor-Shaked H, Zlotogora J, Harel T. Ezer S, et al. Among authors: saada a. J Med Genet. 2025 Oct 20;62(11):682-692. doi: 10.1136/jmg-2025-110872. J Med Genet. 2025. PMID: 40769572
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.
Shalata A, Saada A, Mahroum M, Hadid Y, Furman C, Shalata ZE, Desnick RJ, Lorber A, Khoury A, Higazi A, Shaag A, Barash V, Spiegel R, Vlodavsky E, Rustin P, Pietrokovski S, Manov I, Gieger D, Tal G, Salzberg A, Mandel H. Shalata A, et al. Among authors: saada a. Hum Genomics. 2025 Feb 28;19(1):21. doi: 10.1186/s40246-025-00723-y. Hum Genomics. 2025. PMID: 40022150 Free PMC article. Review.
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation.
Hilander T, Awadhpersad R, Monteuuis G, Broda KL, Pohjanpelto M, Pyman E, Singh SK, Nyman TA, Crevel I, Taylor RW, Saada A, Balboa D, Battersby BJ, Jackson CB, Carroll CJ. Hilander T, et al. Among authors: saada a. iScience. 2024 Jun 4;27(7):110185. doi: 10.1016/j.isci.2024.110185. eCollection 2024 Jul 19. iScience. 2024. PMID: 39015150 Free PMC article.
213 results