Search Results - "Gordon, C.T."

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  1. 1

    A review of craniofacial disorders caused by spliceosomal defects by Lehalle, D., Wieczorek, D., Zechi-Ceide, R.M., Passos-Bueno, M.R., Lyonnet, S., Amiel, J., Gordon, C.T.

    Published in Clinical genetics (01-11-2015)
    “…The spliceosome is a large ribonucleoprotein complex that removes introns from pre‐mRNA transcripts. Mutations in EFTUD2, encoding a component of the major…”
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    Journal Article
  2. 2

    Regions of strong coupling between soil moisture and precipitation by Koster, R.D, Dirmeyer, P.A, Guo, Z, Bonan, G, Chan, E, Cox, P, Gordon, C.T, Kanae, S, Kowalczyk, E, Lawrence, D

    “…Previous estimates of land-atmosphere interaction (the impact of soil moisture on precipitation) have been limited by a lack of observational data and by the…”
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    Journal Article
  3. 3

    Cleft palate lateral synechia syndrome in two patients and literature review by Plantin, S., Fabre, M., Soupre, V., Guimier, A., Agostini, V., Gordon, C.T., Galliani, E., Picard, A., Morice, A.

    “…Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of…”
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    Journal Article
  4. 4

    The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function by Gordon, C.T., Tessier, A., Demir, Z., Goldenberg, A., Oufadem, M., Voisin, N., Pingault, V., Bienvenu, T., Lyonnet, S., de Pontual, L., Amiel, J.

    Published in Clinical genetics (01-02-2018)
    “…Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1‐endothelin receptor type A signaling pathway. Animal…”
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    Journal Article
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