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

Year Number of Results
1995 1
1997 1
1998 1
1999 8
2003 1
2004 5
2005 6
2006 10
2007 8
2008 6
2009 7
2010 11
2011 6
2012 8
2013 12
2014 6
2015 4
2016 6
2017 15
2018 10
2019 6
2020 8
2021 15
2022 10
2023 7
2024 1

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PubMed for id: 332931

158 results

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Page 1
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
Homozygosity mapping of a third Joubert syndrome locus to 6q23.
Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. Lagier-Tourenne C, et al. J Med Genet. 2004 Apr;41(4):273-7. doi: 10.1136/jmg.2003.014787. J Med Genet. 2004. PMID: 15060101 Free PMC article.
Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.
[Clinical and genetic analyses of Joubert syndrome in children].
Zhang GY, Zhao YX, Zhao HL, Tang GH, Wang PL, Zhu DN. Zhang GY, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15;25(5):497-501. doi: 10.7499/j.issn.1008-8830.2212069. Zhongguo Dang Dai Er Ke Za Zhi. 2023. PMID: 37272176 Free PMC article. Chinese.
Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome.
Cruz AAV, Feltrini T, Chahud F, Messias K. Cruz AAV, et al. Ophthalmic Plast Reconstr Surg. 2023 May-Jun 01;39(3):e71-e72. doi: 10.1097/IOP.0000000000002253. Epub 2023 Mar 16. Ophthalmic Plast Reconstr Surg. 2023. PMID: 36928037
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
158 results