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Author/Creator Svingou, Maria

2. A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement. Issue 3 (16th December 2021)

Authors:
Papadopoulos, Constantinos; Kekou, Kiriaki; Anastasakis, Aris; Svingou, Maria; Malfatti, Edoardo; Metay, Corinne; Chrysanthou, Margarita; Paschou, Christina; Miliopoulos, Dimitris; Efthimiadis, Georgios; Adamopoulos, Stamatios; Papadimas, George
Journal:
Muscle & nerve
Issue:
Volume 65:Issue 3(2022)
Page Start:
E7
Record Type:
Journal Article
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4. 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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5. 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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6. Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype. Issue 1 (28th October 2016)

Authors:
Pons, Roser; Kekou, Kyriaki; Gkika, Artemis; Papadimas, George; Vogiatzakis, Nikolaos; Svingou, Maria; Papadopooulos, Constantinos; Nikas, Ioanis; Dinopoulos, Argirios; Youroukos, Sotiris; Kanavakis, Emmanouel
Journal:
Muscle & nerve
Issue:
Volume 55:Issue 1(2017)
Page Start:
46
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗