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Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.
Clin Genet. 2017.
PMID: 28632965
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.
Makrythanasis P, et al. Among authors: frysira e.
Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.
Clin Genet. 2013.
PMID: 23320472
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The Cognitive Approach to Bioethical Issues in Perinatal Care in Greece.
Glynou A, Frysira E, Christakakou-Fotiadi K, Eleftheriadis M, Sarella A, Stergiotou I, Koukaki M, Chasalevri E, Galatis D, Salakos N.
Glynou A, et al. Among authors: frysira e.
Cureus. 2022 Mar 1;14(3):e22760. doi: 10.7759/cureus.22760. eCollection 2022 Mar.
Cureus. 2022.
PMID: 35371863
Free PMC article.
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