Deep venous thrombosis in a child associated with an abnormal inferior vena cava by SAKELLARIS, G, TILEMIS, S, PAPAKONSTANTINOU, O, BITSORI, M, TSETIS, D, CHARISSIS, G

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Persistent urogenital sinus with bladder agenesis and absence of vagina by SAVANELLI, A., ESPOSITO, C., TILEMIS, S., FRANZESE, A., GUYS, J., SETTIMI, A.

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Acute appendicitis in preschool-age children by SAKELLARIS, George, TILEMIS, Stefanos, CHARISSIS, Giorgos

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Pilomatricoma in childhood : a retrospective study from three European paediatric centres by CIGLIANO, Bruno, BALTOGIANNIS, Nikolaos, DE MARCO, Marianna, FAVIOU, Elsa, SETTIMI, Alesandro, TILEMIS, Stefanos, SOUTIS, Michail, PAPANDREOU, Evangellos, D'AGOSTINO, Sergio, FABBRO, Maria Angelica

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Deep venous thrombosis in a child associated with an abnormal inferior vena cava by Sakellaris, G, Tilemis, S, Papakonstantinou, O, Bitsori, M, Tsetis, D, Charissis, G

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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 disorder... by Marinakis, Nikolaos M., Svingou, Maria, Veltra, Danai, Kekou, Kyriaki, Sofocleous, Christalena, Tilemis, Faidon‐Nikolaos, Kosma, Konstantina, Tsoutsou, Eirini, Fryssira, Helen, Traeger‐Synodinos, Joanne

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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype by Veltra, Danai, Kosma, Konstantina, Papavasiliou, Antigoni, Tilemis, Faidon‐Nikolaos, Traeger‐Synodinos, Joanne, Sofocleous, Christalena

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Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion by Mitrakos, A., Kekou, K., Tilemis, F.‐N., Svingou, M., Papadimas, G., Sofocleous, C., Traeger‐Synodinos, J., Tzetis, M.

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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases by Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M, Veltra, Danai, Svingou, Maria, Kekou, Kyriaki, Mitrakos, Anastasios, Tzetis, Maria, Kosma, Konstantina, Makrythanasis, Periklis, Traeger-Synodinos, Joanne, Sofocleous, Christalena

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Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7 by Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M., Kosma, Konstantina, Fostira, Florentia, Traeger-Synodinos, Joanne

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Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children by Christodoulaki, Vasileia, Kosma, Konstantina, Marinakis, Nikolaos M, Tilemis, Faidon-Nikolaos, Stergiou, Nikolaos, Kampouraki, Afroditi, Kapogiannis, Charalampos, Karava, Vasiliki, Mitsioni, Andromachi, Mila, Maria, Kanaka-Gantenbein, Christina, Makrythanasis, Periklis, Tzetis, Maria, Traeger-Synodinos, Joanne

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Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome by Nikolaou, Michaela, Vasilakis, Ioannis-Anargyros, Marinakis, Nikolaos M., Tilemis, Faidon-Nikolaos, Zellos, Aglaia, Lykopoulou, Evangelia, Traeger-Synodinos, Joanne, Kanaka-Gantenbein, Christina

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Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies by Marinakis, Nikolaos M., Tilemis, Faidon-Nikolaos, Veltra, Danai, Svingou, Maria, Sofocleous, Christalena, Kekou, Kyriaki, Kosma, Konstantina, Kampouraki, Afrodite, Kontse, Chrysi, Fylaktou, Irene, Sertedaki, Amalia, Kanaka-Gantenbein, Christina, Traeger-Synodinos, Joanne, Makrythanasis, Periklis

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Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7 by Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M, Kosma, Konstantina, Fostira, Florentia, Traeger-Synodinos, Joanne

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