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Year | Number of Results |
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2009 | 1 |
2012 | 1 |
2015 | 1 |
2024 | 0 |
PubMed (cited) for id: 300804
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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.
J Med Genet. 2015.
PMID: 26092869
Free PMC article.
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J.
Field M, et al.
Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22.
Eur J Hum Genet. 2012.
PMID: 22353940
Free PMC article.
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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP.
Coene KL, et al.
Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.
Am J Hum Genet. 2009.
PMID: 19800048
Free PMC article.
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