Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

por Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M., Tommerup, Niels, Sismani, Carolina
Publicado 2018

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

por Alexandrou, Angelos, Salameh, Nicole, Papaevripidou, Ioannis, Nicolaou, Nayia, Myrianthopoulos, Panayiotis, Ketoni, Andria, Kousoulidou, Ludmila, Anastasiou, Anna-Maria, Evangelidou, Paola, Tanteles, George A., Sismani, Carolina
Publicado 2023