Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.1-479 identifier identifier

Hyperphenylalaninemia due to novel JCDNA12 mutation

SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.324

Oxysterol levelsas oxidative stress biomarkers in organic acidemia patients

SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 04 September 2018 - 07 September 2017, vol.41, pp.37-219

Mucopolysaccharidosis in a patyient with congenital glaucoma

13. International Congress of İnborn Errors of metabolism, 5 - 08 September 2017

Oxysterol levels in Organic Acidemia patients: Preliminary results.

13th International Congress of Inborn Errors of Metabolism., Rio-De-Janeiro, Brazil, 5 - 08 September 2017, vol.5

Three-year experience of pediatric physicians with adult inpatient consultations

13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brazil, 5 September - 08 May 2017

Etilmelonik ensefalopati: vaka sunumu

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

yeni metabolik hastalıkların tanımlanmasında genetik yaklaşım

V uluslararası katılımlı lizozomal hastalıklar kongresi, 14 - 17 April 2016

Veziküler trafik bozuklukları

3. nörometabolik dismorfoloji sempozyumu, Turkey, 10 - 13 March 2016

Two cases with mucopolysaccharidosis type VII

12th Annual WORLD Symposium, California, United States Of America, 29 February - 04 March 2016, vol.117 identifier

Türkiye de Genom Veri Bankasının Oluşturulması

7. DETAE günleri 2015, Turkey, 11 - 12 November 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

A case of fucosidosis with a new mutation in FUCA1 gene

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015

Fenilketonüride yenilikler

Fenilketonüride yenilikler, Turkey, 20 - 21 February 2015

bilinmeyen nörometabolik hastalıklara yaklaşım

xııı ulusal metabolik hastalıklar ve beslenme kongresi, Turkey, 14 - 18 April 2015

Lecture Gathering data in databases for clinical purposes

ESHG-PPPC Course Genetics in health care: Practice and Policies, 12 - 15 February 2015

Two adult siblings with progressive walking difficulty and visual disturbances

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114 identifier

A novel mutation in DGUOK gene in a Turkish newborn

J Inherit Metab Dis 2010;33(1):S81, P-229. (SSIEM, Annual Symposium, 2010, İstanbul, Turkey)., İstanbul, Turkey, 31 August 2010

Sialik Asit Depo Hastalığının Belirlenmesinde Nükleer Manyetik Rezonans Spektroskopisi

Metabolizmanın Regülasyonu ve Metabolik Bozukluklar Lisansüstü Yaz Okulu, Trabzon, Turkey, 29 June - 06 July 2008

Books & Book Chapters

Metrics

Publication

187

Citation (WoS)

544

H-Index (WoS)

14

Citation (Scopus)

649

H-Index (Scopus)

16

Project

18

Open Access

14
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