Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report

by Adamantios Katerelos, Nikolaos Zagkos, Dimitra Alexopoulou, Stella Mouskou, Anastasia Korona, Emmanouil Manolakos
Published 2020-02-01

The multiple faces of Danon disease

by Dimitrios Ntelios, Despoina Parcharidou, Thomas Zegkos, Stylianos Paraskevaidis, Emmanouil Manolakos, Ioannis Papoulidis, Vassilios Vassilikos, Haralampos Karvounis, Georgios Efthimiadis
Published 2021-03-01

A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype

by Georgios Efthimiadis, Thomas Zegkos, Soultana Meditskou, Theodoros Karamitsos, Emmanouil Manolakos, Ioannis Papoulidis, Sandro Orru, C. Cadeddu Dessalvi, Haralambos Karvounis, Despoina Parcharidou
Published 2021-01-01

Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

by Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis, Emmanouil Manolakos
Published 2021-07-01

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

by Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano
Published 2019-12-01

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

by George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis
Published 2019-11-01

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

by Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Published 2018-03-01