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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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2000 | 1 |
2012 | 1 |
2013 | 2 |
2024 | 0 |
PubMed (cited) for id: 615630
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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.
Am J Hum Genet. 2013.
PMID: 24183451
Free PMC article.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.
Halbritter J, et al.
Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.
Am J Hum Genet. 2013.
PMID: 24140113
Free PMC article.
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Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V.
Huber C, et al.
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 22791528
Review.
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Visual loss as the presenting sign of Jeune syndrome.
Casteels I, Demandt E, Legius E.
Casteels I, et al.
Eur J Paediatr Neurol. 2000;4(5):243-7. doi: 10.1053/ejpn.2000.0313.
Eur J Paediatr Neurol. 2000.
PMID: 11030072
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