@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|0000-0002-7564-1641},
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|0000-0002-5855-2217,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},
}