Showing 1 - 7 results of 7 for search 'Ioannis Papaevripidou', query time: 0.04s Refine Results
  1. 1
    CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report

    CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report by Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G. Stefanou, Carolina Sismani

    Published 2023-12-01
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  2. 2
    A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

    A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report by Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou

    Published 2024-03-01
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  3. 3
    Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

    Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing by Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A. Tanteles, Carolina Sismani

    Published 2022-12-01
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  4. 4
    Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

    Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene by Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani

    Published 2023-05-01
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  5. 5
    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.

    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. by Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani

    Published 2018-01-01
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  6. 6
    Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

    Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies by Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Paola Evangelidou, Angelos Alexandrou, Nicole Salameh, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Ludmila Kousoulidou, Violetta C. Anastasiadou, Carolina Sismani

    Published 2024-01-01
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  7. 7
    GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

    GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing by Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou

    Published 2023-09-01
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