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Laboratory Medicine|September 20, 2024
Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutationAlexandros Giannakis, Gkirai Chamko, Ioannis Sarmas, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 7, 2026
Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical featuresStefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, et al.
BMC Medical Genetics|July 28, 2019
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case reportKonstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N Tsaousis, et al.
Molecular Genetics & Genomic Medicine|August 28, 2020
Report of a germline double heterozygote in MSH2 and PALB2Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N Tsaousis, et al.
International Journal of Molecular Sciences|March 27, 2025
Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor AnomaliesStefania Kalampokini, Dimitrios G Goulis, Georgia Pepe, et al.
Neurogenetics|May 6, 2026
A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndromeVasileios Siokas, Maria Sokratous, Antonia Tsika, et al.
World Journal of Gastrointestinal Oncology|November 30, 2016
Molecular predictive markers in tumors of the gastrointestinal tractEirini Papadopoulou, Vasiliki Metaxa-Mariatou, Georgios Tsaousis, et al.
Journal of the Neurological Sciences|March 11, 2023
The evolution of comprehensive genetic analysis in neurology: Implications for precision medicineEirini Papadopoulou, Georgia Pepe, Spiridon Konitsiotis, et al.
Cancer Genetics|January 10, 2018
Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic centerAngela Apessos, Konstantinos Agiannitopoulos, Georgia Pepe, et al.
Oncology Letters|March 9, 2022
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancerVahit Ozmen, Ahmet Okay Caglayan, Kanay Yararbas, et al.
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