Welcome to the UPF Digital Repository

Browsing Center for Genomic Regulation (CRG) by Author "Rabionet Janssen, Raquel"

Browsing Center for Genomic Regulation (CRG) by Author "Rabionet Janssen, Raquel"

Sort by: Order: Results:

  • De novo PORCN and ZIC2 mutations in a highly consanguineous family
    Castilla-Vallmanya, Laura; Gürsoy, Semra; Bozkaya, Özlem Giray; Prats-Planas, Aina; Bullich, Gemma; Matalonga, Leslie; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg, Daniel; Balcells, Susana; Urreizti, Roser (MDPI, 2021)
    We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical ...

Search DSpace


Advanced Search

Browse

My Account

In collaboration with Compliant to Partaking