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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1999 1
2002 2
2004 3
2005 7
2006 7
2007 4
2008 3
2009 5
2010 4
2011 4
2012 8
2013 5
2014 4
2015 7
2016 5
2017 2
2018 2
2019 3
2021 1
2022 1
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69 results
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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.
Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Marinakis NM, et al. Among authors: fryssira h. 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
Cantú Syndrome Associated with Ovarian Agenesis.
Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC. Fryssira H, et al. Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10. Mol Syndromol. 2017. PMID: 28690487 Free PMC article.
A clinical study of Sotos syndrome patients with review of the literature.
Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H. Leventopoulos G, et al. Among authors: fryssira h. Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013. Pediatr Neurol. 2009. PMID: 19380072 Review.
Dental abnormalities in Schimke immuno-osseous dysplasia.
Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF. Morimoto M, et al. Among authors: fryssira h. J Dent Res. 2012 Jul;91(7 Suppl):29S-37S. doi: 10.1177/0022034512450299. J Dent Res. 2012. PMID: 22699664 Free PMC article.
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
Zouvelou V, Yubero D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Perez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch R, Pons R. Zouvelou V, et al. Among authors: fryssira h. Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14. Eur J Paediatr Neurol. 2019. PMID: 30799092
Schimke immunoosseous dysplasia: defining skeletal features.
Hunter KB, Lücke T, Spranger J, Smithson SF, Alpay H, André JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Fründ S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF. Hunter KB, et al. Among authors: fryssira h. Eur J Pediatr. 2010 Jul;169(7):801-11. doi: 10.1007/s00431-009-1115-9. Epub 2009 Dec 15. Eur J Pediatr. 2010. PMID: 20013129 Free PMC article.
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P. Marais A, et al. Among authors: fryssira h. Eur J Med Genet. 2022 Aug;65(8):104537. doi: 10.1016/j.ejmg.2022.104537. Epub 2022 Jun 9. Eur J Med Genet. 2022. PMID: 35690317
Mutation spectrum and phenotypic manifestation in FSHD Greek patients.
Sakellariou P, Kekou K, Fryssira H, Sofocleous C, Manta P, Panousopoulou A, Gounaris K, Kanavakis E. Sakellariou P, et al. Among authors: fryssira h. Neuromuscul Disord. 2012 Apr;22(4):339-49. doi: 10.1016/j.nmd.2011.11.001. Epub 2012 Feb 21. Neuromuscul Disord. 2012. PMID: 22357364
69 results