Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

ATP7B Gene Mutations Sequenced In 150 Patients

15.Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.305

Pentazomi (49,XXXYY) Görülen Nadir Bir Yenidoğan Olgu

7. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 26 - 28 May 2022, pp.188-189

Nadir Bir Bağ Doku Hastalığı: Myhre Sendromu

7. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 26 - 28 May 2022, pp.178

Williams -Beuren Sendromu: Bir Vaka Sunumu

7. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 26 - 28 May 2022, pp.184

Simpson-Golabi-Behmel Sendromu: Bir Vaka Sunumu

7. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 26 - 28 May 2022, pp.202-203

Three rare variants in one patient: A case report

6. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi,, Kayseri, Turkey, 16 - 18 September 2021, pp.43 Creative Commons License Sustainable Development

A Case of Branchio-Otic Syndrome

6. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 16 - 18 September 2021, pp.47 Creative Commons License

about gene therapy

The International Congress of Future Medical Pioneers 2021, Samsun, Turkey, 8 - 09 May 2021, pp.47-51 Creative Commons License

14. ULUSAL TIBBİ GENETİK KONGRESİ “Uluslararası Katılımlı”, Ankara, Turkey, 20 - 22 November 2020, pp.23 Creative Commons License

A Novel NPR2 Mutation in Two Turkish Siblings with Acromesomelic Dysplasia Maroteaux Type

14.Ulusal Tıbbi Genetik Kongresi “Uluslararası Katılımlı”, Ankara, Turkey, 20 - 22 November 2020, pp.69 Creative Commons License

A novel mutation of infantile epileptic encephalopathy type 9; a rare genetic disorder with an interesting inheritance pattern

V. International Participated Erciyes Medical Genetics Days Congress, Nevşehir, Turkey, 20 - 22 February 2020, vol.31, no.3, pp.49 Creative Commons License

Nutrigenetics, Nutrigenomics and Chronic Diseases

1. Uluslararası 4. Geleneksel Sağlık Çalışanları Meslek Günleri Sempozyumu, Erzurum, Turkey, 14 - 16 November 2019, pp.451 Creative Commons License

Stuve-Wiedemann syndrome: a case report without osteorosis

58th Annual Meeting of the ESPE , Vienna, Austria, 19 - 21 September 2019, pp.378-379 Creative Commons License identifier

Coronal Synostosis Syndrome (Muenke Syndrome)

13.BALKAN GENETİK KONGRESİ, Edirne, Turkey, 17 - 20 April 2019, pp.143

An Inherited Novel FGFR2 Variant: A Case Report

13.BALKAN GENETİK KONGRESİ, Edirne, Turkey, 17 - 20 April 2019, pp.136

45,X and SRY positive male withinfertility: A case report

Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Turkey, 21 - 23 February 2019, pp.52-53

A case of Rubinstein Taybisyndrome with a very rare finding;Dandy Walker malformation

Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Turkey, 21 - 23 February 2019, pp.42

A case of Cri du Chat syndrome

Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Turkey, 21 - 23 February 2019, pp.43

Orofaciodigital syndrome XVII:A rare case report

Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Turkey, 21 - 23 February 2019, pp.42

A Case of Two Siblings with VLDLR-Associated Cerebellar Hypoplasia.

Uluslararası Katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018

A Case Report of Rarely Genetic Condition Cleidocranial Dysplasia

ULUSLARARASI KATILIMLI 13.ULUSAL TIBBİ GENETİK KONGRESİ, Turkey, 7 - 11 November 2018, vol.30, pp.95

Nablus Mask-Like Sendromlu Üç Vaka

11.Ulusal Tıbbi Genetik Kongresi, İstanbul, Turkey, 24 - 27 September 2014, pp.159

Bruck Sendromlu Bir Vaka

11.Ulusal Tıbbi Genetik Kongresi, İstanbul, Turkey, 24 - 27 September 2014, pp.76

A case with Cri du chat syndrome and 45,XX, der(5) t(521)(p13q10), -21 karyotype.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, pp.119

A case with Crouzon syndrome without craniosynostosis

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, pp.34

Translocated X inactivation in a patient with t(X;19)

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, pp.118-119

Books & Book Chapters

Alzheimer Hastalığı ve Herediter Demanslar

in: Nörogenetikte Güncel Gelişmeler, Çam Fethi Sırrı, Editor, Türkiye Klinikleri, Ankara, pp.6-11, 2023

Herediter Ataksilere Genetik Yaklaşım

in: Temel Pediatrik Nöroloji: Tanı ve Tedavi, Kumandaş Sefer, Canpolat Mehmet, Editor, Akademisyen yayınevi, pp.1543-1555, 2022

Are Some Trauma-Related Findings Actually Signs of Genetic Diseases?

in: Multidisiplinary Approach to Trauma, Turgut Mehmet Cenk, Turgıt Asli, Editor, Nova Science Publishers, New York, pp.273-278, 2022

Herediter Ataksilere Genetik Yaklaşım Algoritması

in: Pediatrik Nöroloji: Algoritmalar ve İlaç Rehberi, Kumandaş Sefer, Canpolat Mehmet, Editor, Akademisyen yayınevi, Ankara, pp.345-346, 2022

in: , Ali Murat Sedef, Editor, akademisyen yayınevi, Ankara, pp.21-26, 2021 Creative Commons License