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Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013.
Front Hum Neurosci. 2013.
PMID: 24399946
Free PMC article.
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
Kokkinou E, Roka K, Alexopoulos A, Tsina E, Nikas I, Krallis P, Thanopoulou I, Nasi L, Makrygianni E, Tsoutsou E, Kosma K, Tsipi M, Tzetis M, Frysira H, Kattamis A, Pons R.
Kokkinou E, et al. Among authors: frysira h.
Postgrad Med. 2019 Sep;131(7):445-452. doi: 10.1080/00325481.2019.1659708. Epub 2019 Sep 12.
Postgrad Med. 2019.
PMID: 31443616
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Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.
Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.
Kitsiou-Tzeli S, et al. Among authors: frysira h.
Gene. 2012 Jan 15;492(1):319-24. doi: 10.1016/j.gene.2011.10.023. Epub 2011 Oct 20.
Gene. 2012.
PMID: 22037486
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The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Tzetis M, Kitsiou-Tzeli S, Frysira H, Xaidara A, Kanavakis E.
Tzetis M, et al. Among authors: frysira h.
Expert Rev Mol Diagn. 2012 Jun;12(5):449-57. doi: 10.1586/erm.12.40.
Expert Rev Mol Diagn. 2012.
PMID: 22702362
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Two novel variants in the TCF12 gene identified in cases with craniosynostosis.
Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H.
Goumenos A, et al. Among authors: frysira h.
Appl Clin Genet. 2019 Feb 12;12:19-25. doi: 10.2147/TACG.S190855. eCollection 2019.
Appl Clin Genet. 2019.
PMID: 30858722
Free PMC article.
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Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years.
Arditi JD, Thomaidis L, Frysira H, Doulgeraki A, Chrousos GP, Kanaka-Gantenbein C.
Arditi JD, et al. Among authors: frysira h.
J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):797-803. doi: 10.1515/jpem-2016-0362.
J Pediatr Endocrinol Metab. 2017.
PMID: 28672740
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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L.
Schepers D, et al. Among authors: frysira h.
Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16.
Eur J Hum Genet. 2015.
PMID: 24736733
Free PMC article.
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