Marinakis M Nikolaos

Marinakis M Nikolaos

National and Kapodistrian University of Athens - Athens / Greece
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 5109673
Εθνικού και Καποδιστριακού Πανεπιστημίου Αθηνών
person_outline Marinakis M Nikolaos's MOST POPULAR ARTICLES
1-) 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 … NM Marinakis, M Svingou, D Veltra, K Kekou, C Sofocleous, FN Tilemis, ... American Journal of Medical Genetics Part A 185 (8), 2561-2571, 2021 252021
2-) Germline CNV detection through whole-exome sequencing (WES) Data Analysis enhances Resolution of Rare Genetic DiseasesFN Tilemis, NM Marinakis, D Veltra, M Svingou, K Kekou, A Mitrakos, ...Genes 14 (7), 1490, 2023222023
3-) Case report: a novel synonymous ARPC1B gene mutation causes a syndrome of combined immunodeficiency, asthma, and allergy with significant intrafamilial clinical heterogeneityI Papadatou, N Marinakis, E Botsa, M Tzanoudaki, M Kanariou, I Orfanou, ...Frontiers in immunology 12, 634313, 2021212021
4-) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersA Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, ...Brain 146 (8), 3273-3288, 202382023
5-) SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutationV Milionis, D Goutas, D Vlachodimitropoulos, AC Lazaris, I Kyriazis, ...Authorea Preprints, 202172021