@ARTICLE{
author={Papoulidis Ioannis,Eleftheriades Makarios,Manolakos Emmanouil,Petersen Michael B,Liappi Simoni Marina,Konstantinidou Anastasia,Papamichail Maria,Papadopoulos Vassilios,Garas Antonios,Sotiriou Sotirios,Papastefanou Ioannis,Daskalakis Georgios,Ristic Aleksandar J},
year={2022},
title={Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature},
journal={CHILDREN-BASEL},
volume={9},
number={12},
pages={-},
document_type={Review},
} 

@ARTICLE{
author={Zecevic Nebojsa,Arsenijevic Vladimir,Manolakos Emmanouil,Papoulidis Ioannis,Theocharis Georgios,Sartsidis Anastasios,Tryfon Tsagas Tryfon,Tziotis Ioannis,Dagklis Themistoklis,Kalogeros Georgios,Tsakiridis Ioannis,Filipovic-Stankovic Milica,Eleftheriades Makarios},
year={2020},
title={New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies},
journal={MOLECULAR SYNDROMOLOGY},
volume={11},
number={2},
pages={104-109},
document_type={Article},
}