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SCI-SSCI or SCI Expanded Articles

  • Baysal M, Demir S, Ümit EG, Gürkan H, Baş V, Karaman Gülsaran S, Demirci U, Kırkızlar HO, Demir AM.Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients. Balkan Med J. 2019 Oct 9. doi: 10.4274/balkanmedj.galenos.2019.2019.7.2. (October 2019)
  • Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S,5, Atli EI, Basmak H7, Demir S, Nik AM, Footz T, Guo S, Duman D, Fitoz S, Gurkan H, Blanton SH,10,11, Walter MA, Carlsson P, Walz K, Tekin M.FOXF2 is required for cochlear development in humans and mice.Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431. (April 2019)
  • .E. ATLI, H. GÜRKAN, S. ULUSAL, Y. KARAL, I. E. ATLI, H. TOZKIR, Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome, Clinical Dysmorphology, pp. 1-, 1, 2018.
  • .K. KLINGBEIL, C. GREENLAND, S. ARSLAN, P. ARIANNE, H. GÜRKAN, S. ULUSAL, M. REZA, A. GONZALEZ, S. ARMENDARIZ, R. PAREDES, N. H. ELÇIOGLU, I. MENENDEZ, M. BEHNAM, J. FOSTER, S. GUO, S. ESCARFULLER, F. C. BASAK, D. DUMAN, G. BADEMCI, M. TEKIN, Novel EYA1 variants causing Branchio-oto-renal syndrome, International Journal of Pediatric Otorhinolaryngology, vol. 98, pp. 59-63, 7, 2017.
  • .I. GÖRKER, H. GÜRKAN, S. ULUSAL, E. ATLI, G. AYAZ, C. CEYLAN, H. TOZKIR, M. A. ALTAY, A. EROL, Otizm Spektrum Bozuklugu Tanisi Alan Türk Çocuk ve Ergenlerde Mikrodizin Karsilastirilmali Genomik Hibridizasyon Yöntemi Ile Kopya Sayisi Degisikliklerinin Arastirilmasi, Nöropsikiyatri Arsivi, 2017.
  • .H. GÜRKAN, M. ÇELIK, G. Y. FIDAN, R. YiLDiRiM, B. B. YILMAZ, S. ULUSAL, Analysis of THRB Gene in Turkish Patients and Definition of Three Novel Pathogenic Variants, Journal of Clinical Research in Pediatric Endocrinology, 6, 2017.
  • S. ULUSAL, H. GÜRKAN, E. ATLI, A. S. ÖZAL, M. ÇIFTDEMIR, H. TOZKIR, Y. KARAL, H. GÜÇLÜ, D. EKER, I. GÖRKER, Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants, Balkan Journal of Medical Genetics, vol. 20, no. 1, 6, 2017.
  • Inan C, Sayın NC, Atlı E, Ulusal S, Erzincan S, Uzun I, Gurkan H, Varol FG. Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. Fetal Pediatr Pathol. 2016 Jun 16:1-5 (June 2016)
  • İkbal Atli E, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H. A Case With Emanuel Syndrome: Extra Derivative 22 Chromosome Inherited From The Mother. BJMG 18(2), 77-82 (January 2016)
  • Gürkan, Hakan; Fischer, Judith; Ulusal, Selma; Vatansever, Ülfet; Hartmann, Britta; Tozkr, Hilmi; Schlipf, Nina; Acunas, Betül Ayse. A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis. (January 2015)
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    ATIF
  • .I. E. ATLI, H. GÜRKAN, Ü. Ö. VATANSEVER, S. ULUSAL, H. TOZKIR, A case with Emanuel syndrome extra derivative 22 chromosome inherited from the mother, Balkan Journal of Medical Genetics, vol. 18, no. 2, pp. 77-82, 1, 2015.
  • H. Gurkan, H. Tozkır, E. Göncü, S. Ulusal and M. Yazar. The relationship between methylenetetrahydrofolate reductase c.677TT genotype and oligozoospermia in infertile male patients living in the Trakya region of Turkey. (November 2014)
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    ATIF
  • Ulusal S, Gürkan H, Vatansever Ü, Kürkçü K, Tozkir H, Acunaş BA. A Case Of Treacher Collıns Syndrome. BJMG, 16 (2), 2013, 77-80. (November 2013)
  • Muslumanoglu MH, Tepeli E, Demir S, Uludag A, Uzun D, Atli E, Canturk KM, Ozdemir M, Turgut M.The analysis of the relationship between A1298C and C677T polymorphisms of the MTHFR gene with prostate cancer in Eskisehir population.Genet Test Mol Biomarkers. 2009 Oct;13(5):641-5. (October 2009)
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    ATIF
  • .H. M. MÜSLÜMANOGLU, E. TEPELI, S. ULUSAL, A. ULUDAG, D. UZUN, M. K. CANTÜRK, M. TURGUT, The Analysis of the Relationship Between A1298C and C677T Polymorphisms of the MTHFR Gene with Prostate Cancer in Eskisehir Population, Genetic Testing and Molecular Biomarkers, vol. 13, no. 5, pp. 641-645, 10, 2009.
  • Muslumanoglu MH, Saracoglu N, Cilingir O, Basmaci T, Urer S, Sabuncu I, Demir S, Bademci G, Artan S. A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda. Br J Dermatol. 2006 Aug;155(2):467-9. (August 2006)
    2
    ATIF

International Articles

  • .S. ULUSAL, H. TOZKIR, H. GÜRKAN, A. Y. SEZER, E. ATLI, E. TASTEKIN, N. TUNÇBILEK, F. G. VAROL, Pathogenic Variations of Brca1 and Brca2 Genes in the Breast and/or Ovarian Cancer Patients Living in Trakya Region of Turkey, Erciyes Medical Journal, vol. 39, no. 2, pp. 44-86, 6, 2017.
  • .I. E. ATLI, H. GÜRKAN, H. TOZKIR, Y. ÖZEN, S. ULUSAL, E. ATLI, F. G. VAROL, C. N. SAYIN, Cytogenetic Analysis and Thrombophilia Associated Gene Mutations of Couples with Recurrent Miscarriage, Journal of Fertilization: In Vitro - IVF-Worldwide, Reproductive Medicine, Genetics & Stem Cell Biology, vol. 4, no. 3, 1, 2016.

International Conference Proceedings

  • .H. TOZKIR, S. ULUSAL, H. GÜRKAN, E. ATLI, Y. KARAL, T. S. KARASALIHOGLU, Four novel pathogenic variants in TSC2 gene of Turkish patients with tuberous sclerosis complex, EUROPEAN HUMAN GENETICS CONFERENCE. (May 2017)
  • .H. GÜRKAN, I. GÖRKER, E. ATLI, I. E. ATLI, S. ULUSAL, D. EKER, H. TOZKIR, ArrayCGH analysis in patients with intellectual disability/developmental delay in Turkish Children living in Trakya Region, EUROPEAN HUMAN GENETICS CONFERENCE. (May 2017)
  • .S. ULUSAL, G. E. ÜMIT, H. GÜRKAN, H. TOZKIR, M. BAYSAL, E. GÖNCÜ, D. EKER, M. A. DEMIR, Screening for CALR gene mutations in Jak-2 V617F mutation negative patients with myeloproliferative neoplasms, EUROPEAN HUMAN GENETICS CONFERENCE.
  • H. Gurkan, S. Demir Ulusal, H. Tozkır, E. Atlı, E. I. Atlı, D. Eker. Genetic screening for chromosomal abnormalities, Y chromosome microdeletions and copy number variation in infertile male patients living in the Trakya region of Turkey. European Human Genetics Conference-2016, (ESHG-2016). 21-24 May 2016, Conference venue: CCIB, Barcelona, Spain. P01.051 (May 2016)
  • E. Atli, H. Gurkan, S. Demir Ulusal, Y. Karal, E. I. Atli, H. Tozkir. A novel mutation of TBC1D24 identified in a Turkish family with DOORS syndrome. European Human Genetics Conference-2016, (ESHG-2016). 21-24 May 2016, Conference venue: CCIB, Barcelona, Spain. P11.051 (May 2016)
  • H. Tozkır, S. Demir Ulusal, E. Atlı1, A. Sezer, H. Gürkan, N. Tunçbilek. Results of BRCA1 and BRCA2 mutation screening with next generation sequencing in a cohort of breast and ovarian cancer patients in Trakya region of Turkey. European Human Genetics Conference-2016, (ESHG-2016). 21-24 May 2016, Conference venue: CCIB, Barcelona, Spain. P12.035 (May 2016)
  • S. Demir Ulusal, H. Gürkan, E. Atl1, D. Eker, S. A. Özal, H. Tozkır. Comprehensive analysis of NF1 gene by using targeted resequencing and multiplex ligation-dependent probe amplification in patients with neurofibromatosis type I. European Human Genetics Conference-2016, (ESHG-2016). 21-24 May 2016, Conference venue: CCIB, Barcelona, Spain. P12.162 (May 2016)
  • .S. ULUSAL, H. GÜRKAN, E. ATLI, D. EKER, A. S. ÖZAL, H. TOZKIR, Comprehensive analysis of NF1 gene by using targeted resequencing and multiplex ligation dependent probe amplification in patients with neurofibromatosis type I, European Human Genetics Conference.
  • .H. GÜRKAN, S. ULUSAL, H. TOZKIR, E. ATLI, I. E. ATLI, D. EKER, Genetic screening for chromosomal abnormalities Y chromosome microdeletions and copy number variation in infertile male patients living in the Trakya region of Turkey, European Human Genetics Conference-2016.
  • .S. ULUSAL, H. GÜRKAN, E. ATLI, D. EKER, A. S. ÖZAL, H. TOZKIR, Comprehensive analysis of NF1 gene by using targeted resequencing and multiplex ligation dependent probe amplification in patients with neurofibromatosis type I, European Human Genetics Conference.
  • .S. ULUSAL, H. GÜRKAN, E. ATLI, D. EKER, A. S. ÖZAL, H. TOZKIR, Comprehensive analysis of NF1 gene by using targeted resequencing and multiplex ligation dependent probe amplification in patients with neurofibromatosis type I, European Human Genetics Conference.
  • .H. TOZKIR, S. ULUSAL, E. ATLI, A. Y. SEZER, H. GÜRKAN, N. TUNÇBILEK, Results of BRCA1 and BRCA2 mutation screening with next generation sequencing in a cohort of breast and ovarian cancer patients in Trakya region of Turkey, European Human Genetics Conference-2016.
  • Selma Demir Ulusal, Engin Atlı, Hakan Gurkan, Mert Çiftdemir, Hilmi Tozkır. A Novel Mutatıon in COL1A1 Gene in A Pateint With Osteogenesis Imperfecta. 12th International Skeletal Dysplasia Society Meeting, Istanbul, July29, August 1, 2015. (August 2015)
  • Selma Demir Ulusal · M. H. Muslumanoğlu · M. Muslumanoğlu · S. Başaran · Z. Z. Çalay · A. Aydıner · U. Vogt · T. Çakır · S. Artan, Association of Twist transcription factor expression and chemosensitivity of primary breast tumor samples.European Human Genetics Conference. June 6 - 9, 2015 Glasgow, Scotland, United Kingdom, (June 2015)
  • Inan C, Sayın NC, Gurkan H, Erzincan SG, Ulusal S, Atlı EI, Varol FG. Both siblings affected by tetrasomy 18p in a dichorionic twin pregnancy. 14th World Congress in Fetal Medicine, 21-25 June 2015, Crete, Greece (June 2015)
  • Gorker I; Gurkan H; Demir Ulusal S. A Nine Year Old Girl With Phelan Mc Dermid Syndrome, Who Had Been Diagnosed With Autism Spectrum Disorder. 16th ESCAP International Congress, 20 - 24 June 2015 / Spain, Madrid, (June 2015)
  • H. Gurkan, U. Vatansever, E. I. Atlı, D. Eker, S. Ulusal, N. A. Çiftdemir, H. Tozkır. Genotype-phenotype correlation in three patients with Wolf-Hirschhorn syndrome. European Human Genetics Conference. June 6 - 9, 2015 Glasgow, Scotland, United Kingdom, (June 2015)
  • S. Demir Ulusal, MH Müslümanoğlu, ME Müslümanoğlu, ZZ Çalay, S Başaran, H. Kadıoğlu, U. Vogt, HER2 overexpression and in vitro response to chemotherapeutic agents in breast tumors, CLINICAL GNETICS, 9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, December 1-5, 2010, Istanbul, Turkey (December 2010)
  • Demir S, Ozgon G, Ismailoglu B, Fiorentino F, Karagozoglu H, Karlıkaya G, Kahraman S, Molecular analysis of spinal muscular atrophy for preimplantation genetic diagnosis, 8th International Symposium of Preimplantation Genetic Diagnosis, April 23-26, 2008, Barcelona, Spain. (April 2008)
  • Ismailoglu B, Ozgon G, Fiorentino F, Demir S, Karagozoglu H, Unal S, Karlıkaya G, Kahraman S, Application of PGD for Single Gene Disorders, 8th International Symposium of Preimplantation Genetic Diagnosis, April 23-26, 2008, Barcelona, Spain. (April 2008)
  • Ozgon G, Ismailoglu B, Fiorentino F, Demir S, Karlıkaya K, Karagozoglu H, Kahraman S, Beta Thalassaemia with human leukocyte antigen typing for PGD, 8th International Symposium of Preimplantation Genetic Diagnosis, April 23-26, 2008, Barcelona, Spain (Sözlü Bildiri) (April 2008)
  • MH Muslumanoglu, O., Cilingir, S., Demir, M. Turgut: Association of VDR Bsm I Polymorphism with Prostate Cancer in Turkish Population, European Human Genetics Conference 2005.
  • HM. Tanır, T Sener, S Artan, S. Demir, B Tekin F Sahin Mutlu, MN Eskalen: Apoptotic markers from placentas of pregnancies associated with intrauterine growth retardation. The 5th Congress On Controversies in Obstetrics, Gynecology and Infertility, June 3-6, 2004. (June 2004)
  • HM. Tanır, T Sener, S Artan, S. Demir, B Tekin F Sahin Mutlu, MN Eskalen: Apoptotic markers from placentas of pregnancies associated with preeclampsia. The 5th Congress On Controversies in Obstetrics, Gynecology and Infertility, June 3-6, 2004. (June 2004)

National Articles

  • Muhammed Hamza Muslumanoglu, Tanju Basmaci, Selma Demir Ulusal, Huseyin Aslan, Emre Tepeli, Muhsin Ozdemir, Mehmet Turgut. The Relationship between Insulin PSTI Polymorphism and Prostate Cancer in Turkish Population. Cukurova Med J. 2013; 38(3): 434-439

National Conference Proceedings

  • .S. ULUSAL, H. TOZKIR, H. GÜRKAN, A. Y. SEZER, E. ATLI, E. TASTEKIN, N. TUNÇBILEK, F. G. VAROL, Pathogenic Variations of Brca1 and Brca2 Genes in the Breast and/or Ovarian Cancer Patients Living in Trakya Region of Turkey, Erciyes Medical Genetics Days, -TÜRKIYE.
  • .H. GÜRKAN, M. ÇELIK, G. Y. FIDAN, E. ALGÜN, M. ÇALISKAN, T. OMMA, R. YILDIRIM, E. ÜNAL, B. B. YILMAZ, S. ULUSAL, TÜRK HASTALARDA THRB GENININ ANALIZI VE ÜÇ YENI PATOJENIK VARYANTIN TANIMI, 2. EGE ENDOKRIN HASTALIKLARI VE GENETIK SEMPOZYUMU, -TÜRKIYE.
  • Selma ULUSAL, Hakan GÜRKAN, Engin ATLI, Hilmi TOZKIR. Coagulation Factor X Gene Mutations in Five Patients With Factor X Defficiency. Uluslararası Katkılı ‘Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi. 11-13 Şubat 2016, KAYSERİ. Sözlü Sunum (February 2016)
  • Hakan GÜRKAN, Hilmi TOZKIR, Tuba EREN, Damla EKER, Selma ULUSAL, Gülsüm Emel PAMUK, Ahmet Muzaffer DEMİR. Trakya Bölgesi’nde Görülen Beta Talasemi Mutasyonları Ve Frekanslarının Araştırılması. II. Hematolojik Genetik Sempozyumu, 24-26 Şubat 2016, Ege Üniversitesi Tıp Fakültesi, Muhiddin Erel Amfisi/İZMİR, P-57 (February 2016)
  • Selen Gürsoy Erzincan, Selma Demir Ulusal, Füsun Gülizar Varol, Cihan İnan, Işıl Uzun, Hakan Gürkan, Niyazi Cenk Sayın. A Novel Mutation in CHRNG gene in a case of Nonlethal Multiple Pterygium Syndrome. Ultrasonografi Kursu, 29-31 Ekim 2015, Harbiye Askeri Müzesi, İstanbul. Maternal-Fetal Tıp Perinatoloji Derneği (October 2015)
  • Selma Ulusal, Hakan Gurkan, Engin Atlı, Damla Eker, Yasemin Karal, Hilmi Tozkır. Nörofibromatosis Tip 1 Şüpheli Pediatrik Olgularda NF1 Gen Mutasyonlarının Araştırılması. 2.Ulusal Cocuk Genetik Sempozyumu/ 22-24 Ekim 2015, Samsun (October 2015)
  • Emine İkbal Atlı, Hakan Gurkan, Selma Ulusal, Rıdvan Duran, Hilmi Tozkır. Ekstra derivatif kromozom 22 taşıyan bir olgu: Emanuel sendromu. 2.Ulusal Cocuk Genetik Sempozyumu/ 22-24 Ekim 2015, Samsun, (October 2015)
  • Müslümanoğlu MH, Yıldırım N, Demir S, Tepeli E, Ozdemır M, Gelatinous droplike corneal distrofili bir ailede M1S1 geninde saptanan yeni bir mutasyon, VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17-20 Mayıs 2006, Kayseri. (May 2006)
  • Basmacı T, Demir S, Turgut M, Müslümanoğlu MH, özdemir M, Türk popülasyonunda insülin geni Pst I polimorfizmi ile prostat kanseri arasındaki ilişki, VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17-20 Mayıs 2006, Kayseri. (May 2006)
  • Tepeli E, Demir S, Müslümanoğlu MH, Atlı E, Uzun D, Turgut M, Türk popülasyonunda MTHFR geni A1298C ve C677T polimorfizmlerinin prostat kanseri ile ilişkisinin incelenmesi, VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17-20 Mayıs 2006, Kayseri. (May 2006)
  • Müslümanoğlu MH, Çilingir O, Saraçoğlu N, Demir S, Urer S, Bademci G, Tepeli E, Sabuncu İ, Artan S, Mal de Meledalı olgularda ARS (Component B) geninde saptanan yeni mutasyonlar, VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17-20 Mayıs 2006, Kayseri (May 2006)
  • Tepeli E, Müslümanoğlu MH, Demir S, Özdemir M, Durak B, Yurdakul H, Artan S, Tekrarlayan gebelik kaybı olan çiftlerin subtelomerik bölgelerinin MLPA yöntemiyle incelenmesi, VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17-20 Mayıs 2006, Kayseri (Sözlü Bildiri). (May 2006)
  • Artan S, Durak B, Bademci G, Tepeli E, Kaytaz B, Demir S, Ozdemir M, Çilingir O, Müslümanoğlu MH, FISH ve MLPA yöntemleriyle multipl konjenital anomalili iki kuzende subtelomerik bölge anomalilerinin ortaya konması, VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17-20 Mayıs 2006, Kayseri (Sözlü Bildiri). (May 2006)
  • MH Müslümanoğlu, B Çakır, O Çilingir, S Güler, S Demir, K Gül, G Gürsoy, M Özdemir, S Artan, Tip II diyabetli hastalarda glikojen sentetaz gen polimorfimi ile nefropati, retinopati, hipertansiyon ve nöropati arasındaki ilişki, VI. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 21-24 Nisan 2004, Antalya. (April 2004)

Projects

  • TÜBAP- 2015-161 Migren Tanılı Hastalarda Mitokondriyal DNA Mutasyonlarının Arastırılması
  • .Yüksekögretim Kurumlari tarafindan destekli bilimsel arastirma projesi, NON OBSTRUKTIF AZOSPERMIK INFERTIL ERKEK HASTALARDA GEN KOPYA SAYISI DEGISIKLIKLERININ MIKRODIZIN ANALIZI ARRAYCGH YÖNTEMI ILE ARASTIRILMASI, Baslangiç Tarihi: 22.05.2014, Bitis Tarihi : 09.02.2017,Kurumu: TRAKYA ÜNIVERSITESI, Tamamlandi.
  • .ARASTIRMA PROJESI, Trakya Bölgesi nde Yasayan Diferansiye Tiroid Kanseri Olgularinda Tiroid Kanserine Yatkinlikla Iliskili Polimorfizmlerin Arastirilmasi, Tiroid kanserlerinde genetik yatkinligin arastirilmasi, Baslangiç Tarihi: 31.10.2015, Bitis Tarihi : ,Kurumu: TRAKYA ÜNIVERSITESI, Devam Ediyor.

Awards

  • En iyi sözlü sunum ödülü-Analysis of THRB Gene in Turkish Patients and Definition of Three Novel Pathogenic Variants, En iyi sözlü suum ödülü, Yil: 2017, EGE ÜNIVERSITESI, EGE ÜNIVERSITESI.
  • .Sözlü sunum üçüncülük ödülü, Yil: 2016, ERCIYES ÜNIVERSITESI, ERCIYES ÜNIVERSITESI.
  • Muslumanoglu MH, Saracoglu N, Cilingir O, Basmaci T, Urer S, Sabuncu I, Demir S, Bademci G, Artan S. A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda. Br J Dermatol. 2006 Aug;155(2):467-9.Tübitak Ulusal Bilim Teşvik Ödülü. (August 2006)