Welcome to the UPF Digital Repository

Browsing Center for Genomic Regulation (CRG) by Author "Güngör, Serdal"

Browsing Center for Genomic Regulation (CRG) by Author "Güngör, Serdal"

Sort by: Order: Results:

  • Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita (Springer, 2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...

Search DSpace


Advanced Search

Browse

My Account

In collaboration with Compliant to Partaking