Showing 1 - 8 results of 8 for search 'Carolina Sismani', query time: 0.01s Refine Results
  1. 1
    A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

    A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus by Carolina Sismani, Georgia Christopoulou, Angelos Alexandrou, Paola Evangelidou, Jacqueline Donoghue, Anastasia E. Konstantinidou, Voula Velissariou

    Published 2015-01-01
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  2. 2
    Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

    Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 by George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Savvas S. Papacostas

    Published 2015-01-01
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  3. 3
    Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11

    Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11 by Vassos Neocleous, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, Leonidas A. Phylactou

    Published 2014-01-01
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  4. 4
    Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.

    Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications. by Maria C Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C Patsalis

    Published 2017-01-01
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  5. 5
    Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

    Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata by Theodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, Elena Spanou-Aristidou, Isavella Savva, Theodoros Christodoulides, Maria Krasia, Violetta Christophidou-Anastasiadou, Carolina Sismani, Anthi Drousiotou, George A. Tanteles

    Published 2016-01-01
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  6. 6
    MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.

    MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of co... by Anna Keravnou, Marios Ioannides, Charalambos Loizides, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Elena Kypri, Michael D Hadjidaniel, Maria Neofytou, Skevi Kyriacou, Carolina Sismani, George Koumbaris, Philippos C Patsalis

    Published 2018-01-01
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  7. 7
    Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

    Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report by Anna Μaria Anastasiou, Anna Μaria Anastasiou, Constantia Aristidou, Athina Theodosiou, Ludmila Kousoulidou, Ioannis Papaevripidou, Angelos Alexandrou, Paola Evangelidou, Carolina Sismani, George A. Tanteles, George A. Tanteles, Despina Sanoudou, Despina Sanoudou, Aristides G. Eliopoulos, Aristides G. Eliopoulos

    Published 2025-08-01
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  8. 8
    Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.

    Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing. by Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Nicole Salameh, Paola Evangelidou, Marios Tomazou, Andreas Mavrides, Sozos Fasouliotis, George Anastasiou, Andreas Stavroulis, Niki Agathokleous, Maria Agathokleous, Stelios Tsangarides, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Emilia Athanasiou, Sofia Ourani, Violetta C Anastasiadou, George Tanteles, Ludmila Kousoulidou, Carolina Sismani

    Published 2025-01-01
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