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

Year Number of Results
2004 1
2006 1
2010 2
2011 6
2012 4
2013 4
2014 6
2015 4
2016 7
2017 6
2018 3
2019 7
2020 4
2023 1

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PubMed (Bookshelf cited) for id: 347610

46 results

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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 morbid genome of ciliopathies: an update.
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Alghamdi JM, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Seidahmed MZ, Alkuraya FS. Shamseldin HE, et al. Genet Med. 2020 Jun;22(6):1051-1060. doi: 10.1038/s41436-020-0761-1. Epub 2020 Feb 14. Genet Med. 2020. PMID: 32055034 Free article.
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Cutaneous findings in Bardet-Biedl syndrome.
Haws RM, McIntee TJ, Green CB. Haws RM, et al. Int J Dermatol. 2019 Oct;58(10):1160-1164. doi: 10.1111/ijd.14412. Epub 2019 Feb 20. Int J Dermatol. 2019. PMID: 30790276
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS. Wormser O, et al. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723319 Free PMC article. Clinical Trial.
46 results