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

Year Number of Results
1993 1
2003 3
2004 1
2005 1
2006 1
2007 2
2008 3
2009 3
2011 2
2012 4
2013 1
2014 1
2015 1
2016 8
2017 9
2018 14
2019 17
2020 19
2021 24
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Search Results

101 results
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Page 1
USH2A-retinopathy: From genetics to therapeutics.
Toualbi L, Toms M, Moosajee M. Toualbi L, et al. Among authors: moosajee m. Exp Eye Res. 2020 Dec;201:108330. doi: 10.1016/j.exer.2020.108330. Epub 2020 Oct 27. Exp Eye Res. 2020. PMID: 33121974 Free article. Review.
PAX6-Related Aniridia.
Moosajee M, Hingorani M, Moore AT. Moosajee M, et al. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301534 Free Books & Documents. Review.
Practical guide to genetic screening for inherited eye diseases.
Méjécase C, Malka S, Guan Z, Slater A, Arno G, Moosajee M. Méjécase C, et al. Among authors: moosajee m. Ther Adv Ophthalmol. 2020 Sep 22;12:2515841420954592. doi: 10.1177/2515841420954592. eCollection 2020 Jan-Dec. Ther Adv Ophthalmol. 2020. PMID: 33015543 Free PMC article. Review.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA. Pontikos N, et al. Among authors: moosajee m. Ophthalmology. 2020 Oct;127(10):1384-1394. doi: 10.1016/j.ophtha.2020.04.008. Epub 2020 Apr 16. Ophthalmology. 2020. PMID: 32423767 Free PMC article.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Among authors: moosajee m. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: moosajee m. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
101 results
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