Articles
7
All (7)
SCI-E, SSCI, AHCI (7)
SCI-E, SSCI, AHCI, ESCI (7)
Scopus (7)
4. 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, Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences
26
2. CMV Miyokarditi ve Ağır Hipotonisi Olan Bir Hastada ORAI1 Defekti
7. Klinik İmmünoloji Kongresi, Turkey, 6 - 09 October 2021, pp.64-65, (Summary Text)
5. 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, (Summary Text)
7. Ethylmalonic encephalopathy without ethylmalonic aciduria
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 September 2016, (Summary Text)
8. ethymelanonic encephaopathy without etilmelanoc acitüria
SSIEM ROMA, 6 - 09 September 2016, (Summary Text)
9. 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, (Summary Text)
10. 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, (Summary Text)
11. pontocerebellar hypoplasia type 6 a case with meonatal seizures hypotonia and microcephaly diagnosed by exome sequencing
SSIEM roma, 6 - 09 September 2016, (Summary Text)
12. Thalamic Lesions Associated with Epilepsy and ESES
14th International Child Neurology Congress, Amsterdam, Netherlands, 1 - 05 May 2016, (Summary Text)
13. Ekzom Dizi Analizi ile ATP8A2 Aminofosfolipid Transporter Protein Geninde Saptanan Yeni Bir Splaysing Mutasyonu
3. Nörometabolik Dismorfoloji Sempozyumu, Turkey, 10 - 12 March 2016
15. Splicing mutation in aminophospholipid transporter protein ATP8A2 in a Turkish family
SSIEM, 4 - 06 September 2015
17. 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
18. SMART syndrome A rare complication of cranial radiotherapy
The European Paediatric Neurology Society (EPNS), 27 - 30 May 2015, vol.19, pp.42, (Summary Text)
19. Magnetic resonance imaging findings in pediatric tuberoussclerosis patients
The European Paediatric Neurology Society (EPNS), 27 - 30 May 2015, vol.19, pp.131, (Summary Text)
20. 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
21. 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
22. 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, (Summary Text)
23. 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
24. Hereditary spastic paraplegia with predominant cerebel lar signs due to KIF1C mutation in two brothers
SSIEM, 4 - 07 September 2015, (Full Text)
