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Results by year

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

Year Number of Results
1989 1
1993 1
1999 1
2000 1
2001 1
2002 4
2003 1
2004 6
2005 3
2006 2
2007 1
2008 4
2009 3
2010 4
2011 7
2012 8
2013 2
2014 6
2015 9
2016 3
2017 4
2018 1
2019 2
2020 5
2021 2
2022 1
2023 1

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Article type

Publication date

PubMed Links for Bookshelf ID: 1474518

75 results

Results by year

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Page 1
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Daich Varela M, et al. Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. Hum Mol Genet. 2023. PMID: 36084042 Free PMC article.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.
The Era of Precision Medicine: Reshaping Usher Syndrome.
Jung J. Jung J. Clin Exp Otorhinolaryngol. 2020 May;13(2):87-88. doi: 10.21053/ceo.2019.02117. Epub 2020 May 1. Clin Exp Otorhinolaryngol. 2020. PMID: 32434306 Free PMC article. No abstract available.
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS. Jouret G, et al. Otol Neurotol. 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. Otol Neurotol. 2019. PMID: 30531642
75 results