Achievements & Reputation

Publication

329

Citation (WoS)

1541

Citation (Scopus)

1623

Citation (Scholar)

171

H-Index (WoS)

17

H-Index (Scopus)

18

H-Index (Scholar)

7

Congress and Symposium Activities

  • 09 November 2022 - 13 November 2022 15. Ulusal Tıbbi Genetik Kongresi

    Session Moderator

    Muğla, Turkey

  • 09 November 2022 - 13 November 2022 15. Ulusal Tıbbi Genetik Kongresi

    Session Moderator

    Muğla, Turkey

  • 03 November 2022 - 05 November 2022 27. Ergen Günleri

    Invited Speaker

    Aydın, Turkey

  • 02 June 2022 - 05 June 2022 10. Ulusal Pediatrik Dermatoloji Günleri

    Session Moderator

    Eskişehir, Turkey

  • 02 June 2022 - 05 June 2022 10. Ulusal Pediatrik Dermatoloji Günleri

    Invited Speaker

    Eskişehir, Turkey

  • 26 May 2022 - 28 May 2022 7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi

    Invited Speaker

    Kayseri, Turkey

  • 25 November 2021 - 28 November 2021 1. Ulusal HematoOnkoGenetik Kongresi

    Session Moderator

    Antalya, Turkey

  • 16 September 2021 - 18 September 2021 6. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi

    Invited Speaker

    Kayseri, Turkey

  • 12 March 2021 - 13 March 2021 4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu

    Session Moderator

    İzmir, Turkey

  • 28 February 2021 - 28 February 2021 Nadir Hastalıklar Günü Online Sempozyum

    Session Moderator

    Ankara, Turkey

  • 26 February 2021 - 26 March 2021 Covid-19 Pandemisinde Pediatrik Nadir Hastalıklara YaklaşımSustainable Development

    Invited Speaker

    Lefkoşa, Cyprus (Kktc)

  • 20 November 2020 - 22 November 2020 14. Ulusal Tıbbi Genetik Kongresi

    Session Moderator

    Ankara, Turkey

  • 07 March 2020 - 07 March 2020 Endokrinoloji/ Metabolizma Hastalıkları, kadın sağlığı ve 7. Gebelik sempozyumu

    Invited Speaker

    Ankara, Turkey

  • 28 February 2020 - 28 February 2020 Nadir Hastalıklar Günü 28 Şubat 2020

    Invited Speaker

    Ankara, Turkey

  • 09 January 2020 - 11 January 2020 1. Bursa uluslararası katılımlı genetik Günleri: dermatogenetik sempozyumu

    Session Moderator

    Bursa, Turkey

  • 20 November 2019 - 24 November 2019 XXIV. Prof. Dr. A. Lütfü Tat sempozyumu

    Invited Speaker

    Ankara, Turkey

  • 05 October 2019 - 06 October 2019 2. Genetikte güncel tedaviler sempozyumu

    Session Moderator

    Konya, Turkey

  • 25 September 2019 - 27 September 2019 4. Ulusal çocuk genetik Kongresi

    Session Moderator

    Ankara, Turkey

  • 17 April 2019 - 20 April 2019 13th Balkan Kongresi

    Session Moderator

    Edirne, Turkey

  • 07 March 2019 - 09 March 2019 3. Ege Endokrin hastalıklar ve genetik sempozyumu

    Session Moderator

    İzmir, Turkey

  • 28 February 2019 - 28 February 2019 Nadir hastalıklar günü

    Invited Speaker

    Ankara, Turkey

  • 28 February 2019 - 28 February 2019 Nadir hastalıklar günü

    Session Moderator

    Ankara, Turkey

  • 21 February 2019 - 23 February 2019 Erciyes Genetik Günleri 2019

    Invited Speaker

    Kayseri, Turkey

  • 21 February 2019 - 23 February 2019 Erciyes Genetik Günleri 2019

    Session Moderator

    Kayseri, Turkey

  • 07 November 2018 - 11 November 2018 13. Uluslararası katılımlı ulusal Tıbbi Genetik Kongresi

    Invited Speaker

    Antalya, Turkey

  • 07 November 2018 - 11 November 2018 Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi

    Session Moderator

    Antalya, Turkey

  • 31 May 2018 - 02 June 2018 Fetal tıp ve Prenatal Tanı Kongresi

    Session Moderator

    Ankara, Turkey

  • 31 May 2018 - 02 June 2018 Fetal Tıp ve Prenatal tanı Kongresi

    Panelists

    Ankara, Turkey

  • 31 May 2018 - 02 June 2018 Fetal Tıp ve Prenatal Tanı Kongresi

    Panelists

    Ankara, Turkey

  • 07 March 2018 - 10 March 2018 Erciyes Tıp Genetik Günleri

    Invited Speaker

    Kayseri, Turkey

  • 28 February 2018 - 28 February 2018 Nadir hastalıklar

    Panelists

    Ankara, Turkey

  • 14 February 2018 - 16 February 2018 3. Hematolojik genetik sempozyumu

    Session Moderator

    İzmir, Turkey

  • 28 February 2017 - 28 February 2018 Nadir hastalıklar sempozyumu

    Invited Speaker

    Ankara, Turkey

  • 11 October 2017 - 14 October 2017 3. Ulusal çocuk genetik sempozyumu

    Session Moderator

    Antalya, Turkey

  • 03 June 2017 - 04 June 2017 Tıbbi Genetikte Algoritmalar Sempozyumu

    Invited Speaker

    Ankara, Turkey

  • 11 May 2017 - 13 May 2017 Erciyes Genetik Günleri

    Session Moderator

    Kayseri, Turkey

  • 11 May 2017 - 13 May 2017 Erciyes Tıp Genetik Günleri

    Invited Speaker

    Kayseri, Turkey

  • 18 November 2016 - 18 November 2016 G.Ü Tıp Fakültesi Kadın sağlığı ve hastalıkları AD seminerleri

    Invited Speaker

    Ankara, Turkey

  • 10 March 2016 - 12 March 2016 3. Nörometabolik dismorfoloji sempozyumu

    Session Moderator

    İstanbul, Turkey

  • 29 February 2016 - 29 February 2016 Nadir hastalıklar sempozyumu

    Invited Speaker

    Ankara, Turkey

  • 11 February 2016 - 13 February 2016 Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik uygulamaları Kongresi

    Invited Speaker

    Kayseri, Turkey

  • 22 October 2015 - 24 October 2015 2. Ulusal çocuk genetik sempozyumu

    Session Moderator

    Samsun, Turkey

  • 05 June 2015 - 05 June 2015 6. Uluslararası Tıbbi Etik Proje Yarışması Ödül Töreni

    Invited Speaker

    Ankara, Turkey

  • 19 March 2015 - 19 March 2015 Türk Pedodonti Derneği Ankara Şubesi Bahar Konferansları

    Invited Speaker

    Ankara, Turkey

  • 10 March 2014 - 10 March 2014 G.Ü. KBB AD seminerleri

    Invited Speaker

    Ankara, Turkey

  • 03 December 2013 - 04 December 2013 I. Hematolojik genetik sempozyumu

    Session Moderator

    İzmir, Turkey

  • 26 September 2013 - 27 September 2013 I. Ulusal Çocuk Genetik Sempozyumu

    Session Moderator

    İzmir, Turkey

  • 23 June 2013 - 23 June 2013 ARM derneği aile toplantısı

    Invited Speaker

    Ankara, Turkey

  • 23 June 2013 - 23 June 2013 6. ARM derneği Aile Toplantısı

    Invited Speaker

    Ankara, Turkey

  • 03 May 2013 - 04 May 2013 6. İstanbul Dismorfoloji Günleri

    Session Moderator

    İstanbul, Turkey

  • 12 April 2013 - 12 April 2013 II. Ankara Genetik Günleri

    Invited Speaker

    Ankara, Turkey

  • 08 March 2013 - 09 March 2013 2. Nörometabolik dismorfoloji sempozyumu

    Session Moderator

    İstanbul, Turkey

  • 26 April 2012 - 29 April 2012 II. Uluslararası katılımlı Lizozomal hastalıklar Kongresi

    Session Moderator

    Girne, Cyprus (Kktc)

  • 14 September 2011 - 18 September 2011 Türk Plastik Rekonstrüktif ve Estetik Cerrahi Derneği 33. Kurultayı

    Invited Speaker

    İzmir, Turkey

  • 10 May 2011 - 10 May 2011 G.Ü Tıp Fakültesi Çocuk Hematoloji Bilim Dalı seminerleri

    Invited Speaker

    Ankara, Turkey

  • 10 May 2011 - 10 May 2011 G.Ü Tıp Fakültesi Çocuk Hematoloji Bilim dalı seminerleri

    Invited Speaker

    Ankara, Turkey

  • 29 April 2011 - 30 April 2011 Vth Dysmorphology Days

    Session Moderator

    İstanbul, Turkey

  • 15 April 2011 - 15 April 2011 G.Ü Tıp Fakültesi Nöroloji AD seminerleri

    Invited Speaker

    Ankara, Turkey

  • 01 December 2010 - 05 December 2010 9.Ulusal Tıbbi Genetik Kongresi

    Invited Speaker

    İstanbul, Turkey

  • 24 April 2009 - 25 April 2009 IV. Dysmorphology Days

    Session Moderator

    İstanbul, Turkey

  • 12 May 2008 - 12 May 2008 G.Ü Tıp Fakültesi Kadın Hastalıkları ve doğum kliniği uzmanlık sonrası eğitim toplantısı II

    Invited Speaker

    Ankara, Turkey

  • 14 May 2007 - 14 May 2007 Başkent Üniversitesi Tıbbi Genetik AD seminerleri

    Invited Speaker

    Ankara, Turkey

  • 08 May 2006 - 08 May 2006 Ankara Üniversitesi. tıp Fakültesi Tıbbi Genetik AD seminerleri

    Invited Speaker

    Ankara, Turkey

  • 06 March 2006 - 06 March 2006 G.Ü Tıp Fakültesi Ortopedi AD seminerleri

    Invited Speaker

    Ankara, Turkey

  • 01 February 2005 - 01 February 2005 G.Ü Tıp Fakültesi Göz sağlığı ve hastalıkları AD seminerleri

    Invited Speaker

    Ankara, Turkey

Awards

  • March 2021 "Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy"

    Güven Sağlık Grubu; Xııı. Dr. Aysun-Ahmet Küçükel Tıp Ödülleri / En İyi Bilimsel Araştırma Ödülü

  • March 2019 Two siblings with a rare diagnosis, Raymond tepe X-linked syndromic mental retardation

    Erciyes Genetik Günleri 2091 Kayseri

  • March 2019 A novel mutation in HECW2 gene resulting neurodevelopmental disorder with hypotonia, seizures, and absent language

    Erciyes Genetik Günleri, Kayseri

  • March 2019 A combined oxidative phosphoriylation deficiency 10 case in a neon-consanguineous family

    Erciyes Genetik Günleri 2019 Kayseri

  • March 2018 A patient with two syndrome due to paternal uniparental disomy of chromosome 2 (pUPD2) related with homozygous novel mutations of the RAB3GAP1 and UNC80 genes

    Erciyes Genetik Günleri 2018 Kayseri

  • March 2017 Without the hotspot mutation, Trismus-pseudocamptodactyly syndrome is possible?

    Erciyes Genetik Günleri Kayseri

  • February 2016 Mutation spectrum of the VHL gene mutations.

    Erciyes Genetik Günleri Kayseri

  • February 2016 The fifth family with MACS syndrome

    Erciyes Genetik Günleri, Kayseri

  • May 2013 A case with Michelin Tire Baby Syndrome

    6. İstanbul Dismorfoloji Günleri

  • December 2010 Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome

    Tıbbi Genetik Derneği

  • October 2009 Weil Marchesani Sendromlu bir olgu

    Endokrin Hastalıklar Ve Genetik Sempozyumu

  • May 2008 Anhidrozisli konjenital ağrı duyarsızlığı

    Ulusal Tıbbi Genetik Kongresi Çanakkale

  • May 2008 DuPan Syndrome: The first Turkish patient

    Vııı. Ulusal Tıbbi Genetik Kongresi Çanakkale

Scholarships

  • 2000 - 2001 Genom-Side search for identification of a gene for Open-Angle glacoma

    Other Government Agencies

  • 1998 - 1999 otozomal resessif miktoftalmi geninin pozisyonel haritalaması ve mutasyon taraması (NATO B2)

    TUBITAK