Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Bacteriocinogenic Potential of Enterococcus faecium Isolated from Wine

Probiotics and Antimicrobial Proteins, vol.8, no.3, pp.150-160, 2016 (Journal Indexed in SCI Expanded) identifier identifier identifier

Refereed Congress / Symposium Publications in Proceedings

Triamterene-induced suppression of R227X premature termination codon in Fabry disease

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, United States Of America, 10 - 14 February 2020, vol.129 identifier

Triamterene normalizes glycosaminoglycan accumulation in an IDUA-W402X mouse model of MPS I (Hurler syndrome) via nonsense suppression

15th Annual Research Meeting of the WORLDSymposium(TM), Florida, United States Of America, 4 - 07 February 2019, vol.126 identifier

In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, United States Of America, 13 - 17 February 2017, vol.120 identifier

Genome wide genotyping for the characterization of disease locus in a family with an uncharacterized neurometabolic disease

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.173

Identification of a novel insertion mutation in PCCA gene of a Turkish propionic acidemia patient

9. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, İstanbul, Turkey, 1 - 05 December 2010, vol.78, pp.125

Structural analysis of three novel missense mutations in the Mut gene of methylmalonic acidemia patients

9. Uluslararası Katılımlı Tıbbi Genetik Kongresi, İstanbul, Turkey, 1 - 05 December 2010, vol.78, pp.125

Molecular and structural analysis of six nonsense mutations in mut methylmalonic acidemia patients including two novel nonsense mutations

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.177

Galactosemia in a Turkish population with a high prevalence of Q188R mutation

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.66

Molecular analysis of homocystinuria in Turkish patients

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.35

Mutation profile of BCKDHA BCKDHB and DBT genes for maple syrup urine disease in Turkey

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.23

Cirrhosis associated wıth propionate metabolism

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.50

Screening of ATP7B gene mutations in Turkish patients with Wilson disease by custom designed resequencing microarrays

Annual Symposium of the Society for the Study of Inborn Error of Metabolism, İstanbul, Turkey, 31 August - 03 September 2010, vol.33, pp.160