Buscador de publicacions

Publicacions

  • Luque-Luna M, Borregán M, Lianes JG and Prat-Torres CS.

    Waardenburg syndrome.

    MEDICINA CLINICA . : .

    [doi:10.1016/j.medcli.2024.04.011]

  • Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny T, Fergelot P, Monteiro FP, Parenti I, Persani L, Simarro FS, Simpson BN, Alders M, Robertson SP, Sadikovic B and Menke LA.

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

    Human Genetics and Genomics Advances . : 100287-100287. Nº de cites: 4

    [doi:10.1016/j.xhgg.2024.100287]