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  1. Research | 17 May 2006

    Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

    • Tuula Rinne
    • , Emanuela Spadoni
    • , Klaus W Kjaer
    • , Cesare Danesino
    • , Daniela Larizza
    • , Marianne Kock
    • , Kirsi Huoponen
    • , Marja-Liisa Savontaus
    • , Markku Aaltonen
    • , Pascal Duijf
    • , Han G Brunner
    • , Maila Penttinen
    •  & Hans van Bokhoven
    European Journal of Human Genetics 14 , 904–910
    Rights & permissionsfor article Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the <i>p63</i> gene . Opens in a new window.
  2. Research | 17 April 2003

    Chromosome instability and nibrin protein variants in NBS heterozygotes

    • Caterina Tanzarella
    • , Antonio Antoccia
    • , Emanuela Spadoni
    • , Alessandra di Masi
    • , Vanna Pecile
    • , Eliana Demori
    • , Raymonda Varon
    • , Gian Luigi Marseglia
    • , Luciano Tiepolo
    •  & Paola Maraschio
    European Journal of Human Genetics 11 , 297–303
    Rights & permissionsfor article Chromosome instability and nibrin protein variants in NBS heterozygotes . Opens in a new window.

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