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Valproate effect on ketosis in children under ketogenic diet.
Eur J Paediatr Neurol. 2016 Jul;20(4):555-9. doi: 10.1016/j.ejpn.2016.04.003. Epub 2016 Apr 13.
Eur J Paediatr Neurol. 2016.
PMID: 27117552
Clinical Trial.
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.
Zaganas I, Vorgia P, Spilioti M, Mathioudakis L, Raissaki M, Ilia S, Giorgi M, Skoula I, Chinitrakis G, Michaelidou K, Paraskevoulakos E, Grafakou O, Kariniotaki C, Psyllou T, Zafeiris S, Tzardi M, Briassoulis G, Dinopoulos A, Mitsias P, Evangeliou A.
Zaganas I, et al. Among authors: grafakou o.
Epilepsy Behav Rep. 2021 Aug 27;16:100477. doi: 10.1016/j.ebr.2021.100477. eCollection 2021.
Epilepsy Behav Rep. 2021.
PMID: 34568804
Free PMC article.
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Development of subdural effusions in association with pyruvate dehydrogenase deficiency.
Raissaki M, Grafakou O, Giannopoulos A, Spilioti M, Rodenburg R, Smeitink J, Evangeliou A, Gourtsoyiannis N.
Raissaki M, et al. Among authors: grafakou o.
Eur Radiol. 2005 Oct;15(10):2205-7. doi: 10.1007/s00330-005-2729-6. Epub 2005 Apr 2.
Eur Radiol. 2005.
PMID: 15806364
No abstract available.
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Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA.
Lefeber DJ, et al. Among authors: grafakou o.
Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2.
Am J Hum Genet. 2009.
PMID: 19576565
Free PMC article.
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Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J.
Grafakou O, et al.
Eur J Pediatr. 2003 Oct;162(10):714-8. doi: 10.1007/s00431-003-1282-z. Epub 2003 Aug 19.
Eur J Pediatr. 2003.
PMID: 12925875
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Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.
Grafakou O, Hol FA, Otfried Schwab K, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J.
Grafakou O, et al.
J Inherit Metab Dis. 2003;26(6):593-600. doi: 10.1023/a:1025960300710.
J Inherit Metab Dis. 2003.
PMID: 14605505
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Mesenteric lymphadenopathy as a cause of abdominal pain in children with lobar or segmental pneumonia.
Moustaki M, Zeis PM, Katsikari M, Fretzayas A, Grafakou O, Stabouli S, Tsolia M, Nicolaidou P, Karpathios T.
Moustaki M, et al. Among authors: grafakou o.
Pediatr Pulmonol. 2003 Apr;35(4):269-73. doi: 10.1002/ppul.10254.
Pediatr Pulmonol. 2003.
PMID: 12629623
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Can chest X-ray predict pneumonia severity?
Grafakou O, Moustaki M, Tsolia M, Kavazarakis E, Mathioudakis J, Fretzayas A, Nicolaidou P, Karpathios T.
Grafakou O, et al.
Pediatr Pulmonol. 2004 Dec;38(6):465-9. doi: 10.1002/ppul.20112.
Pediatr Pulmonol. 2004.
PMID: 15481079
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Inherited metabolic disorders in Cyprus.
Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, Ourani S, Papamichael E, Vogazianos M, Dionysiou M, Mavrikiou G, Grafakou O, Tanteles GA, Anastasiadou V, Drousiotou A.
Georgiou T, et al. Among authors: grafakou o.
Mol Genet Metab Rep. 2024 Apr 23;39:101083. doi: 10.1016/j.ymgmr.2024.101083. eCollection 2024 Jun.
Mol Genet Metab Rep. 2024.
PMID: 38694234
Free PMC article.
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A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
Malekkou A, Tomazou M, Mavrikiou G, Dionysiou M, Georgiou T, Papaevripidou I, Alexandrou A, Sismani C, Drousiotou A, Grafakou O, Petrou PP.
Malekkou A, et al. Among authors: grafakou o.
BMC Med Genomics. 2024 Mar 25;17(1):78. doi: 10.1186/s12920-024-01846-2.
BMC Med Genomics. 2024.
PMID: 38528593
Free PMC article.
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