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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2003 | 1 |
2007 | 1 |
2010 | 1 |
2024 | 0 |
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30.
Nat Genet. 2010.
PMID: 20512146
Free PMC article.
Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
Toma HS, Tan PL, McKusick VA, Katsanis N, Adams NA.
Toma HS, et al.
Ophthalmic Genet. 2007 Jun;28(2):95-9. doi: 10.1080/13816810701209545.
Ophthalmic Genet. 2007.
PMID: 17558852
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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N.
Beales PL, et al.
Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3.
Am J Hum Genet. 2003.
PMID: 12677556
Free PMC article.
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