No photo of Luís Manuel de Almeida Nunes
  • Source: Scopus
  • Calculated based on no. of publications stored in Pure and citations from Scopus
19972014

Research activity per year

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Search results

  • 2014

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodríguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Campo, M. D., Di Donato, N., Diakumis, P., Dubbs, H. & 64 others, Dyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillén-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., Mckee, S., Mehta, S. G., Micule, I., Consortium, C. R. C., Mohammed, S., Moran, E., Mortier, G. R., Moser, J. A. S., Noon, S. E., Nozaki, N., Nunes, L., Pappas, J. G., Penney, L. S., Pérez-Aytés, A., Petersen, M. B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A. E., Schindeler, K. L., Siu, V. M., Stark, Z., Strom, S. P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L. C., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F. J., Jackson, L. G., Shirahige, K., Pié, J., Christianson, D. W., Krantz, I. D., Fitzpatrick, D. R. & Deardorff, M. A., 1 Jan 2014, In : Human molecular genetics. 23, 11, p. 2888-2900 13 p., ddu002.

    Research output: Contribution to journalArticle

    83 Citations (Scopus)
  • 2012

    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

    Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D. & 44 others, Chong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Yanick, J., 1 Mar 2012, In : Nature Genetics. 44, 3, p. 338-342 5 p.

    Research output: Contribution to journalArticle

    158 Citations (Scopus)
  • Novel and recurrent non-truncating mutations of the MITF basic domain: Genotypic and phenotypic variations in Waardenburg and Tietz syndromes

    Léger, S., Balguerie, X., Goldenberg, A., Drouin-Garraud, V., Cabot, A., Amstutz-Montadert, I., Young, P., Joly, P., Bodereau, V., Holder-Espinasse, M., Jamieson, R. V., Krause, A., Chen, H., Baumann, C., Nunes, L., Dollfus, H., Goossens, M. & Pingault, V., 1 May 2012, In : European Journal Of Human Genetics. 20, 5, p. 584-587 4 p.

    Research output: Contribution to journalArticle

    24 Citations (Scopus)
  • 2011

    Cancro da mama na ilha do Pico (1998-2008) uma perspectiva epidemiológica

    Mendes, A. S., Mateus, F., Nogueira, J., Branco, L., Rodrigues, L., Dias, S. S., Nunes, L. & Torgal, J., 2011, In : Acta medica portuguesa. 24, 5, p. 687-694 8 p.

    Research output: Contribution to journalArticle

    Open Access
    File
    1 Citation (Scopus)
    28 Downloads (Pure)
  • 2005

    Monitoring programmes: The fundamental component of estuaries management. how to design one?

    Nunes, L. M., Caeiro, S., Ramos, T. A. B., Cunha, M. C., Ribeiro, L. & Costa, M. H., 2005, Coastal Engineering VII - Modelling, Measurements, Engineering and Management of Seas and Coastal Regions. WITPress, Vol. 78. p. 37-53 17 p.

    Research output: Chapter in Book/Report/Conference proceedingConference contribution

  • 1997

    Genetic services in Portugal

    Santos, H., Cordeiro, I. & Nunes, L., 1 Dec 1997, In : European Journal of Human Genetics. 5, SUPPL. 2, p. 140-144 5 p.

    Research output: Contribution to journalArticle

    2 Citations (Scopus)
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