Published journal articles indexed by SCI, SSCI, and AHCI
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.
Turkish Journal Of Pediatrics
, vol.57, pp.388-393, 2015 (SCI-Expanded)
Developmental abnormalities and mental retardation: diagnostic strategy
PEDIATRIC NEUROLOGY, PT I
, vol.111, pp.211-217, 2013 (SCI-Expanded)
Evaluation of central nervous system in patients with glycogen storage disease type IA
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
, vol.44, pp.163, 2007 (SCI-Expanded)
Articles Published in Other Journals
Refereed Congress / Symposium Publications in Proceedings
CMV Miyokarditi ve Ağır Hipotonisi Olan Bir Hastada ORAI1 Defekti
7. Klinik İmmünoloji Kongresi, Turkey, 6 - 09 October 2021, pp.64-65
Epilepsili Çocukların ve Sağlıklı Yaşıtlarının Fiziksel Aktivite, Uygunluk, Performans ve Yaşam Kalitelerinin Karşılaştırılması
XVII. Fizyoterapi ve Rehabilitasyonda Gelişmeler Kongresi 2018, Antalya, Turkey, 25 - 28 April 2018
Ethylmalonic encephalopathy without ethylmalonic aciduria
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 September 2016
ethymelanonic encephaopathy without etilmelanoc acitüria
SSIEM ROMA, 6 - 09 September 2016
Pontocerebellar hypoplasia type 6 a case with neonatal seizures hypotonia and microcephaly diagnosed by exome sequencing
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 September 2016
A case with psychomotor regression and leukoencephalopathy due to RNASEH2B gene defect
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 September 2016
Thalamic Lesions Associated with Epilepsy and ESES
14th International Child Neurology Congress, Amsterdam, Netherlands, 1 - 05 May 2016
Ekzom Dizi Analizi ile ATP8A2 Aminofosfolipid Transporter Protein Geninde Saptanan Yeni Bir Splaysing Mutasyonu
3. Nörometabolik Dismorfoloji Sempozyumu, Turkey, 10 - 12 March 2016
Splicing mutation in aminophospholipid transporter protein ATP8A2 in a Turkish family
SSIEM, 4 - 06 September 2015
Vacuolar storage material in a family with juvenile parkinsonism andmutations in FBXO7
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015
SMART syndrome A rare complication of cranial radiotherapy
The European Paediatric Neurology Society (EPNS), 27 - 30 May 2015, vol.19, pp.42
Magnetic resonance imaging findings in pediatric tuberoussclerosis patients
The European Paediatric Neurology Society (EPNS), 27 - 30 May 2015, vol.19, pp.131
Dirençli Hipoglisemi Hipertrofik Kardiyomiyopati ve Ensefalopatili Bir Hastada Ekzom Dizileme ile Mitokondriyal TSFM Gen Defekti
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015
Ekzom Dizi Analizi ile MTO1 Mitochondriyal tRNA Modifier Geninde Saptanan Yeni Bir Mutasyon
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015
Lizozom Otofagozom Defekti Sonucu Serebellar Atrofiye Neden Olan Yeni Bir Gen SNX14 Tanımlanması
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, 1, Turkey, 14 - 18 April 2015
Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen Defekti
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015
Hereditary spastic paraplegia with predominant cerebel lar signs due to KIF1C mutation in two brothers
SSIEM, 4 - 07 September 2015