Search results

• 2017

  Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., Papadopoulos, D. K., Leitch, A., Murina, O., Tarnauskaitė, Ž., Wessel, S. R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R. M. A., Logan, C. V., Bye, H., Li, Y., Brean, A., Maddirevula, S., & 42 othersChallis, R. C., Skouloudaki, K., Almoisheer, A., Alsaif, H. S., Amar, A., Prescott, N. J., Bober, M. B., Duker, A., Faqeih, E., Seidahmed, M. Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J. Y., Altmüller, J., Al Balwi, M., Brady, A. F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B. D., Hobson, E., Nürnberg, P., Percin, E. F., Peron, A., Spaccini, L., Quigley, A. J., Thakur, S., Wise, C. A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A. M. R., Reijns, M. A. M., Simpson, M. A., Cortez, D., Alkuraya, F. S., Mathew, C. G., Jackson, A. P. & Stewart, G. S., 1 Apr 2017, In: Nature Genetics. 49, 4, p. 537-549

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Protein 100%
  • Chromosome Instability 49%
  • Genome Instability 49%
  • Replisome 49%
  77 Citations (Scopus)
• 2013

  DESIGN OF THE ODHIN FIVE COUNTRY STUDY - IMPLEMENTING BRIEF INTERVENTIONS FOR HEAVY DRINKING IN PRIMARY HEALTH CARE

  Anderson, P., Gual, A., Spak, F., Bendtsen, P., Keurhorst, M., Segura, L., Colom, J., Reynolds, J., Drummond, C., Deluca, P., van Steenkiste, B., Mierzecki, A., Kloda, K., Wallace, P., Newbury-Birch, D., Kaner, E., Laurant, M. & Wojnar, M., 1 Sept 2013, In: Alcohol and Alcoholism. 48, suppl 1, p. i58-i58 1 p., P79.

  Research output: Contribution to journal › Conference paper › peer-review

• IMPLEMENTING BRIEF INTERVENTIONS FOR HEAVY DRINKING IN PRIMARY HEALTH CARE - ODHIN BASELINE AND PRELIMINARY OUTCOME RESULTS

  Anderson, P., Gual, A., Spak, F., Bendtsen, P., Keurhorst, M., Segura, L., Colom, J., Reynolds, J., Drummond, C., Deluca, P., van Steenkiste, B., Mierzecki, A., Kloda, K., Wallace, P., Newbury-Birch, D., Kaner, E., Laurant, M. & Wojnar, M., 1 Sept 2013, In: Alcohol and Alcoholism. 48, suppl 1, p. i58-i59 2 p., P80.

  Research output: Contribution to journal › Conference paper › peer-review

• SCIENTIFIC CHALLENGES OF EUROPEAN IMPLEMENTATION RESEARCH - EXPERIENCES FROM THE ODHIN FIVE COUNTRY STUDY ON IMPLEMENTING BRIEF INTERVENTIONS FOR HEAVY DRINKING IN PRIMARY HEALTH CARE

  Anderson, P., Gual, A., Spak, F., Bendtsen, P., Keurhorst, M., Segura, L., Colom, J., Reynolds, J., Drummond, C., Deluca, P., van Steenkiste, B., Mierzecki, A., Kloda, K., Wallace, P., Newbury-Birch, D., Kaner, E., Laurant, M. & Wojnar, M., 1 Sept 2013, In: Alcohol and Alcoholism. 48, suppl 1, p. i59-i59 1 p., P81.

  Research output: Contribution to journal › Conference paper › peer-review
  8 Citations (Scopus)