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Year | Number of Results |
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2002 | 1 |
2004 | 1 |
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PubMed (OMIM) for id: 55081
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29.
Clin Genet. 2016.
PMID: 27060890
Free PMC article.
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR.
Fan Y, et al.
Nat Genet. 2004 Sep;36(9):989-93. doi: 10.1038/ng1414. Epub 2004 Aug 15.
Nat Genet. 2004.
PMID: 15314642
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Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.
Gervais FG, Singaraja R, Xanthoudakis S, Gutekunst CA, Leavitt BR, Metzler M, Hackam AS, Tam J, Vaillancourt JP, Houtzager V, Rasper DM, Roy S, Hayden MR, Nicholson DW.
Gervais FG, et al.
Nat Cell Biol. 2002 Feb;4(2):95-105. doi: 10.1038/ncb735.
Nat Cell Biol. 2002.
PMID: 11788820
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Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome.
Phadke SR, Pahi J, Pandey A, Agarwal SS.
Phadke SR, et al.
Clin Dysmorphol. 1999 Jul;8(3):185-8.
Clin Dysmorphol. 1999.
PMID: 10457851
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