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Konstantina Kosma

Showing results (1-10 of 40) with videos related to

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Genes|August 26, 2023
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Anastasios Mitrakos, Konstantina Kosma, Periklis Makrythanasis, et al.
Genes|August 29, 2024
The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal RearrangementsAnastasios K Mitrakos, Konstantina Kosma, Periklis Makrythanasis, et al.
Clinical Chemistry and Laboratory Medicine|October 13, 2015
UBE3A, c.1347_1348delGA: a mutation in questionChristalena Sofocleous, Evmorfia Tzagkaraki, Konstantina Kosma, et al.
Molecular Syndromology|June 16, 2023
Identification of a Novel <i>IQCE</i> Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Konstantina Kosma, et al.
Molecular Syndromology|October 4, 2021
239-kb Microdeletion Spanning <i>KMT2E</i> in a Child with Developmental Delay: Further Delineation of the PhenotypeKonstantina Kosma, Konstantinos Varvagiannis, Anastasios Mitrakos, 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.
Neuropediatrics|December 13, 2018
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-arrayKonstantina Kosma, Anastasios Mitrakos, Christalena Sofokleous, et al.
International Journal of Molecular Sciences|February 27, 2026
Sleep-Disordered Breathing in Chung-Jansen SyndromeKaterina Vlami, Konstantina Kosma, Lamprini Athanasopoulou, et al.
European Journal of Pediatrics|May 19, 2011
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessmentAnna Papadopoulou, Michalis Issakidis, Evangelia Gole, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
Genes|August 26, 2023
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Anastasios Mitrakos, Konstantina Kosma, Periklis Makrythanasis, et al.
Genes|August 29, 2024
The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal RearrangementsAnastasios K Mitrakos, Konstantina Kosma, Periklis Makrythanasis, et al.
Clinical Chemistry and Laboratory Medicine|October 13, 2015
UBE3A, c.1347_1348delGA: a mutation in questionChristalena Sofocleous, Evmorfia Tzagkaraki, Konstantina Kosma, et al.
Molecular Syndromology|June 16, 2023
Identification of a Novel <i>IQCE</i> Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Konstantina Kosma, et al.
Molecular Syndromology|October 4, 2021
239-kb Microdeletion Spanning <i>KMT2E</i> in a Child with Developmental Delay: Further Delineation of the PhenotypeKonstantina Kosma, Konstantinos Varvagiannis, Anastasios Mitrakos, 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.
Neuropediatrics|December 13, 2018
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-arrayKonstantina Kosma, Anastasios Mitrakos, Christalena Sofokleous, et al.
International Journal of Molecular Sciences|February 27, 2026
Sleep-Disordered Breathing in Chung-Jansen SyndromeKaterina Vlami, Konstantina Kosma, Lamprini Athanasopoulou, et al.
European Journal of Pediatrics|May 19, 2011
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessmentAnna Papadopoulou, Michalis Issakidis, Evangelia Gole, et al.
Pageof 4