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

Year Number of Results
2004 1
2005 1
2006 1
2007 3
2010 3
2011 2
2012 4
2013 12
2014 17
2015 11
2016 12
2017 11
2018 7
2019 5
2020 10
2021 6
2022 5
2023 2
2024 1

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Similar articles for PMID: 24516651

98 results

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Page 1
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Sánchez-Alcudia R, Cortón M, Ávila-Fernández A, Zurita O, Tatu SD, Pérez-Carro R, Fernandez-San Jose P, Lopez-Martinez MÁ, del Castillo FJ, Millan JM, Blanco-Kelly F, García-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C. Sánchez-Alcudia R, et al. Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7562-71. doi: 10.1167/iovs.14-14938. Invest Ophthalmol Vis Sci. 2014. PMID: 25342620
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E. Coppieters F, et al. Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13. Genet Med. 2014. PMID: 24625443 Free article.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
98 results