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Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Among authors: athanasakis e. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
Molecular epidemiology of Usher syndrome in Italy.
Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P. Vozzi D, et al. Among authors: athanasakis e. Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22. Mol Vis. 2011. PMID: 21738395 Free PMC article.
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.
Bottega R, Cappellani S, Fabretto A, Spinelli AM, Severini GM, Aloisio M, Faleschini M, Athanasakis E, Bruno I, Faletra F, Pecile V. Bottega R, et al. Among authors: athanasakis e. Mol Genet Genomic Med. 2019 Mar;7(3):e546. doi: 10.1002/mgg3.546. Epub 2019 Jan 9. Mol Genet Genomic Med. 2019. PMID: 30628197 Free PMC article.
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
Matarazzo L, Bianco AM, Athanasakis E, Serveres M, Francalanci P, Cenacchi G, Maggiore G, D'Adamo AP. Matarazzo L, et al. Among authors: athanasakis e. J Pediatr Gastroenterol Nutr. 2022 May 1;74(5):e115-e121. doi: 10.1097/MPG.0000000000003399. Epub 2022 Feb 4. J Pediatr Gastroenterol Nutr. 2022. PMID: 35129155 Free article.
102 results