Browsing Det medisinske fakultet by Author "Rahikkala, Elisa"

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  • Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction 
    Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo; Mamia, Katariina Aino Inkeri; Pernaa, Nora; Lehtonen, Johanna Marianna; Glumoff, Virpi; Rahikkala, Elisa; Honkila, Minna; Olsén, Päivi; Hassinen, Antti; Polso, Minttu; Al Sukati, Nashat; Al Shekaili, Jalila; Al Kindi, Mahmood; Al Hashmi, Nadia; Almusa, Henrikki; Bulanova, Daria; Haapaniemi, Emma Maria; Chen, Pu; Suo-Palosaari, Maria; Vieira, Paivi; Tuominen, Hannu; Kokkonen, Hannaleena; Al Macki, Nabil; Al Habsi, Huda; Löppönen, Tuija; Rantala, Heikki; Pietiäinen, Vilja; Zhang, Shen-Ying; Renko, Marjo; Hautala, Timo; Al Farsi, Tariq; Uusimaa, Johanna; Saarela, Janna Saija (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    Background Homozygous loss of DIAPH1 results in seizures, cortical blindness, and microcephaly syndrome (SCBMS). We studied 5 Finnish and 2 Omani patients with loss of DIAPH1 presenting with SCBMS, mitochondrial ...