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Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. Spilioti M, et al. Among authors: frysira h. Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013. Front Hum Neurosci. 2013. PMID: 24399946 Free PMC article.
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
Kokkinou E, Roka K, Alexopoulos A, Tsina E, Nikas I, Krallis P, Thanopoulou I, Nasi L, Makrygianni E, Tsoutsou E, Kosma K, Tsipi M, Tzetis M, Frysira H, Kattamis A, Pons R. Kokkinou E, et al. Among authors: frysira h. Postgrad Med. 2019 Sep;131(7):445-452. doi: 10.1080/00325481.2019.1659708. Epub 2019 Sep 12. Postgrad Med. 2019. PMID: 31443616
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. Schepers D, et al. Among authors: frysira h. Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736733 Free PMC article.