Ioanna Alexandrou

发表

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

C. Sismani, K. Tsangaras, G. Tanteles, 2016, Journal of Genetics.

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight

C. Sismani, C. Koufaris, A. Alexandrou, 2016, Journal of Genetics.

An unusual combination of an atypical maternally inherited novel 0.3Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

C. Sismani, G. Tanteles, P. Evangelidou, 2020, European journal of medical genetics.

De novo mosaic MECP2 mutation in a female with Rett syndrome

C. Sismani, G. Tanteles, P. Evangelidou, 2019, Clinical case reports.