First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

por Pangalos, Constantinos, Hagnefelt, Birgitta, Lilakos, Konstantinos, Konialis, Christopher
Publicado 2016

Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome

por Gontika, Maria P., Konialis, Christopher, Pangalos, Constantine, Papavasiliou, Antigone
Publicado 2017

Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasoun...

por Konialis, Christopher, Assimakopoulos, Efstratios, Hagnefelt, Birgitta, Karapanou, Sophia, Sotiriadis, Alexandros, Pangalos, Constantinos
Publicado 2017