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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074.
Nat Commun. 2015.
PMID: 26044572
Free PMC article.
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K; Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.
Schmidts M, et al. Among authors: yap zm.
Nat Commun. 2016 Mar 29;7:11270. doi: 10.1038/ncomms11270.
Nat Commun. 2016.
PMID: 27021811
Free PMC article.
No abstract available.
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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM.
Schmidts M, et al.
J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.
J Med Genet. 2013.
PMID: 23456818
Free PMC article.
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Evidence of differential selection for the -α(3.7) and -α(4.2) single-α-globin gene deletions within the same population.
Yap ZM, Sun KM, Teo CR, Tan AS, Chong SS.
Yap ZM, et al.
Eur J Haematol. 2013 Mar;90(3):210-3. doi: 10.1111/ejh.12058. Epub 2013 Feb 14.
Eur J Haematol. 2013.
PMID: 23289742
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