Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene by Charalampos Agakidis, Eleni Agakidou, Kosmas Sarafidis, Ioannis Papoulidis, Ioannis Xinias, Evangelia Farmaki

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Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines by Eirini Giovannopoulou, Ioannis Tsakiridis, Apostolos Mamopoulos, Ioannis Kalogiannidis, Ioannis Papoulidis, Apostolos Athanasiadis, Themistoklis Dagklis

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A New <i>ABCA3</i> Gene Mutation c.3445G&gt;A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome by Georgios Mitsiakos, Christos Tsakalidis, Paraskevi Karagianni, Dimitra Gialamprinou, Ilias Chatziioannidis, Ioannis Papoulidis, Ioannis Tsanakas, Vasiliki Soubasi

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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

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Α Case of Triplets Concordant for Schizophrenia: Psychopathological Considerations by Dimitris G. Dikeos, George B. Mitropoulos, Ersi Tsopanaki, Maria Typaldou, Dimitra Gorgoli, Ioannis Papoulidis, Christos Garnetas, George N. Papadimitriou

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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

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Genetic diversity of bat species in the cross-border area of Greece and Bulgaria by Aristotelis Moulistanos, Giorgos Chatzoglou, Nikoletta Karaiskou, Konstantinos Gkagkavouzis, Styliani Minoudi, Ioannis Papoulidis, Charalambos Alivizatos, Maria Panagiotopoulou, Dionisios Youlatos, Maria Tsaktsira, Alexandros Triantafyllidis, Apostolos Scaltsoyiannes

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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

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Prenatal Identification of a Novel Mutation in the <i>MCPH1</i> Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case... by Ioannis Papoulidis, Makarios Eleftheriades, Emmanouil Manolakos, Michael B. Petersen, Simoni Marina Liappi, Anastasia Konstantinidou, Maria Papamichail, Vassilios Papadopoulos, Antonios Garas, Sotirios Sotiriou, Ioannis Papastefanou, Georgios Daskalakis, Aleksandar Ristic

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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

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