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Year | Number of Results |
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2021 | 1 |
2022 | 1 |
2023 | 5 |
2024 | 0 |
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Page 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 disorders.
Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19.
Am J Med Genet A. 2021.
PMID: 34008892
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN, Marinakis NM, Veltra D, Svingou M, Kekou K, Mitrakos A, Tzetis M, Kosma K, Makrythanasis P, Traeger-Synodinos J, Sofocleous C.
Tilemis FN, et al.
Genes (Basel). 2023 Jul 21;14(7):1490. doi: 10.3390/genes14071490.
Genes (Basel). 2023.
PMID: 37510394
Free PMC article.
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Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Nikolaou M, Vasilakis IA, Marinakis NM, Tilemis FN, Zellos A, Lykopoulou E, Traeger-Synodinos J, Kanaka-Gantenbein C.
Nikolaou M, et al. Among authors: tilemis fn.
Hormones (Athens). 2023 Sep;22(3):515-520. doi: 10.1007/s42000-023-00468-0. Epub 2023 Jul 26.
Hormones (Athens). 2023.
PMID: 37493943
Review.
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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Veltra D, Kosma K, Papavasiliou A, Tilemis FN, Traeger-Synodinos J, Sofocleous C.
Veltra D, et al. Among authors: tilemis fn.
Am J Med Genet A. 2022 Dec;188(12):3563-3566. doi: 10.1002/ajmg.a.62971. Epub 2022 Sep 22.
Am J Med Genet A. 2022.
PMID: 36135319
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Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Kekou K, Svingou M, Vogiatzakis N, Nitsa E, Veltra D, Marinakis NM, Tilemis FN, Tzetis M, Mitrakos A, Tsaroucha C, Selenti N, Papadimas GK, Papadopoulos C, Traeger-Synodinos J, Lochmuller H, Sofocleous C.
Kekou K, et al. Among authors: tilemis fn.
Expert Rev Mol Diagn. 2023 Jul-Dec;23(11):999-1010. doi: 10.1080/14737159.2023.2264181. Epub 2023 Oct 24.
Expert Rev Mol Diagn. 2023.
PMID: 37754746
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Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D, Tilemis FN, Marinakis NM, Svingou M, Mitrakos A, Kosma K, Tsoutsou I, Makrythanasis P, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Vartzelis G, Dinopoulos A, Evangeliou A, Mouskou S, Korona A, Mastroyianni S, Papavasiliou A, Tzetis M, Pons R, Traeger-Synodinos J, Sofocleous C.
Veltra D, et al. Among authors: tilemis fn.
Expert Rev Mol Diagn. 2023 Jan;23(1):85-103. doi: 10.1080/14737159.2023.2173578. Epub 2023 Feb 14.
Expert Rev Mol Diagn. 2023.
PMID: 36714946
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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.
Tilemis FN, Marinakis NM, Kosma K, Fostira F, Traeger-Synodinos J.
Tilemis FN, et al.
Mol Syndromol. 2023 Jun;14(3):225-230. doi: 10.1159/000527777. Epub 2023 Jan 13.
Mol Syndromol. 2023.
PMID: 37323200
Free PMC article.
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