Browsing University Publications by Subject "Cdk5rap2"

Now showing items 1-2 of 2

    • Proteomic profile in congenital microcephaly 

      Ferih, Khaled Ramadan; Elsabagh, Ahmed Adel; Zaqout, Sami Ismail; Kaindl, Angela M ( Qatar University Press , 2021 , Poster)
      Autosomal recessive primary microcephaly (MCPH) consists of a group of disorders characterized by microcephaly and intellectual disability. This study is essential to complement previous findings of MCPH as it helps clarify ...

    • Role of Cdk5rap2 in neocortical inhibition and excitation balance 

      Zaqout, Sami; Becker, Lena-Luise; Mustafa, Ayman; Kramer, Nadine; Strauss, Ulf; ... more authors ( Qatar University Press , 2020 , Poster)
      Autosomal recessive primary microcephaly type 3 (MCPH3) is characterized by congenital microcephaly and intellectual disability. Further features include hyperactivity and seizures. The disease is caused by biallelic ...