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 output per year

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Dive into the research topics where Luís Manuel de Almeida Nunes is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
  • 7 Similar Profiles
  • 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

    78 Citations (Scopus)
  • 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

    151 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

    22 Citations (Scopus)
  • 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)
  • 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

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