Edinburgh Research Explorer
  1. 2009
  2. Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

    El-Sayed, W., Parry, D. A., Shore, R. C., Ahmed, M., Jafri, H., Rashid, Y., Al-Bahlani, S., Al Harasi, S., Kirkham, J., Inglehearn, C. F. & Mighell, A. J., 13 Nov 2009, In : American Journal of Human Genetics. 85, 5, p. 699-705 7 p.

    Research output: Contribution to journalArticle

  3. Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

    Ali, M., McKibbin, M., Booth, A., Parry, D. A., Jain, P., Riazuddin, S. A., Hejtmancik, J. F., Khan, S. N., Firasat, S., Shires, M., Gilmour, D. F., Towns, K., Murphy, A. L., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J. & 4 others, Mackey, D. A., Kalaydjieva, L., Riazuddin, S. & Inglehearn, C. F., 15 May 2009, In : American Journal of Human Genetics. 84, 5, p. 664-671 8 p.

    Research output: Contribution to journalArticle

  4. 2008
  5. A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI

    Watanabe, M., Monai, N., Jackson, M., Yamamoto-Watanabe, Y., Ikeda, Y., Suzuki, C., Tomiyama, M., Kawarabayashi, T., Kimura, T., Seino, Y., Wakasaya, Y., Miki, Y., Matsubara, E. & Shoji, M., 2008, In : Internal Medicine. 47, 24, p. 2179-2182 4 p.

    Research output: Contribution to journalArticle

  6. 2007
  7. FGF stimulation of the Erk1/2 signalling cascade triggers transition of pluripotent embryonic stem cells from self-renewal to lineage commitment

    Kunath, T., Saba-El-Leil, M. K., Almousailleakh, M., Wray, J., Meloche, S. & Smith, A., 1 Aug 2007, In : Development. 134, 16, p. 2895-2902 8 p.

    Research output: Contribution to journalArticle

  8. 2006
  9. Teratogenicity of antiepileptic drugs

    Breen, D. P. & Davenport, R. J., 23 Sep 2006, In : BMJ (Clinical research ed.). 333, 7569, p. 615-6 2 p.

    Research output: Contribution to journalArticle

  10. 2005
  11. Epidemiology, clinical characteristics, and management of adults referred to a teaching hospital first seizure clinic

    Breen, D. P., Dunn, M. J. G., Davenport, R. J. & Gray, A. J., Nov 2005, In : Postgraduate Medical Journal. 81, 961, p. 715-8 4 p.

    Research output: Contribution to journalArticle

  12. Early management of adults with an uncomplicated first generalised seizure

    Dunn, M. J. G., Breen, D. P., Davenport, R. J. & Gray, A. J., Apr 2005, In : Emergency Medicine Journal. 22, 4, p. 237-42 6 p.

    Research output: Contribution to journalReview article

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