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Author/Creator Veltra, Danai

1. Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms. (2nd January 2023)

Authors:
Veltra, Danai; Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M.; Svingou, Maria; Mitrakos, Anastasios; Kosma, Konstantina; Tsoutsou, Irene; Makrythanasis, Periklis; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Vartzelis, Georgios; Dinopoulos, Argirios; Evangeliou,...
Journal:
Expert review of molecular diagnostics
Issue:
Volume 23:Number 1(2023)
Page Start:
85
Record Type:
Journal Article
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2. Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype. (3rd April 2021)

Authors:
Kouvidi, Elisavet; Zachaki, Sophia; Selenti, Nikoletta; Veltra, Danai; Evmorfopoulou, Theodora; Tsoutsou, Eirini; Tzifa, Garifallia; Sofocleous, Christalena; Gagos, Sarantis; Mavrou, Ariadni
Journal:
Gynecological endocrinology
Issue:
Volume 37:Number 4(2021)
Page Start:
377
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene. Issue 4 (10th April 2022)

Authors:
Marinakis, Nikolaos M.; Tsoutsou, Eirini; Sofocleous, Christalena; Veltra, Danai; Papaefthimiou, Petros; Lytras, Aristides; Traeger-Synodinos, Joanne; Kanaka-Gantenbein, Christina
Journal:
Menopause
Issue:
Volume 29:Issue 4(2022)
Page Start:
491
Record Type:
Journal Article
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4. Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. Issue 8 (19th May 2021)

Authors:
Marinakis, Nikolaos M.; Svingou, Maria; Veltra, Danai; Kekou, Kyriaki; Sofocleous, Christalena; Tilemis, Faidon‐Nikolaos; Kosma, Konstantina; Tsoutsou, Eirini; Fryssira, Helen; Traeger‐Synodinos, Joanne
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2561
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗