Showing results (1-10 of 51) with videos related to

Sort By:
Pageof 6
Expert Review of Molecular Diagnostics|December 23, 2008
Molecular diagnosis of Fragile X syndromeChristalena Sofocleous, Aggeliki Kolialexi, Ariadni Mavrou
Brain & Development|May 29, 2004
Thelarche variant in a girl with Angelman syndromeGeorge Katzos, Panagiota Triantafyllou, Nikolaos Gombakis, et al.
Expert Review of Molecular Diagnostics|August 7, 2024
The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technologyGeorgia Kakourou, Christalena Sofocleous, Thalia Mamas, et al.
Cancer Genetics and Cytogenetics|September 24, 2004
Non-Hodgkin lymphoma in a child with Williams syndromeStyliani Amenta, Maria Moschovi, Christalena Sofocleous, et al.
Pediatric Blood & Cancer|May 17, 2017
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical dataPolyxeni Delaporta, Christalena Sofocleous, Marina Economou, et al.
International Journal of Molecular Sciences|March 28, 2024
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient ManagementJoanne Traeger-Synodinos, Christina Vrettou, Christalena Sofocleous, et al.
Human Mutation|April 27, 2004
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosisChristina Vrettou, Joanne Traeger-Synodinos, Maria Tzetis, et al.
Fertility and Sterility|March 18, 2008
Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor geneAngeliki Galani, Christalena Sofocleous, Feneli Karahaliou, et al.
American Journal of Medical Genetics. Part A|September 22, 2022
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotypeDanai Veltra, Konstantina Kosma, Antigoni Papavasiliou, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|March 13, 2016
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetusesMaria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, et al.
Pageof 6