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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 1 |
2010 | 1 |
2011 | 1 |
2012 | 1 |
2013 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 614376
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IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.
Eur J Med Genet. 2020 Dec;63(12):104073. doi: 10.1016/j.ejmg.2020.104073. Epub 2020 Sep 28.
Eur J Med Genet. 2020.
PMID: 33002628
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM.
Schmidts M, et al.
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.
Item in Clipboard
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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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.
Bredrup C, et al.
Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.
Am J Hum Genet. 2011.
PMID: 22019273
Free PMC article.
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Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC.
de Vries J, et al.
Eur J Pediatr. 2010 Jan;169(1):77-88. doi: 10.1007/s00431-009-0991-3. Epub 2009 May 10.
Eur J Pediatr. 2010.
PMID: 19430947
Free PMC article.
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