Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Diğer Dergilerde Yayınlanan Makaleler

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Tek merkez MODY vakalarının incelenmesi

57. Ulusal Diyabet Metabolizma ve Beslenme Hastalıkları Kongresi, Muğla, Türkiye, 1 - 04 Haziran 2021

A STUDY FROM TURKEY: IDENTIFICATION OF COPY NUMBER VARIANTS IN CHILDREN AND ADOLESCENTS WITH AUTISM SPECTRUM DISORDER

67th Virtual Annual Meeting of the American-Academy-of-Child-and-Adolescent-Psychiatry (AACAP), ELECTR NETWORK, 12 - 24 Ekim 2020, cilt.59 identifier

SLC25A4 ilişkili bir aksiyel miyopati olgusu: Yeni bir fenotip

3. Nöromusküler Hastalıklar Kongresi, 1-3 Kasım 2019, Çeşme, İzmir, Türkiye, 1 - 03 Kasım 2019

Branchiootorenal sendromu (BOR) eya1, SIX1, SIX5 genleri mutasyon analizi ve ailesel segregasyon

16. Uluslararası Katılımlı Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2019

A rare etiology of epileptic encephalopathy: HECW2 mutations

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1435 identifier

Copy number variation analysis in autism spectrum disorders

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.259 identifier

A mosaic double aneuploidy: mos 45,X/47,XX,+18/46,XX with mild phenotype

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.996 identifier

Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.384-385 identifier

A new approach (EDIZ) for Big Data Variant Prioritization

13th balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019

Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.466 identifier

A novel RYR 1 gene mutation in a patient with severe central core disease

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.423-424 identifier

A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.998 identifier

Dual overlapping phenotype recessively inherited due to paternal uniparental disomy of chromosome 2(pUPD2) in a patient

51st Conference of Theocharis European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.384-385

P10.07C/C - A novel RYR 1 gene mutation in a patient with severe central core disease

European Human Genetics Conference Copenhagen, Denmark, May 27-30, 2017, 27 - 30 Mayıs 2017

The Relation between micropenis in childhood and CAG with GGN repeat polymorphisms in the androgen reseptor gene

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.261 Creative Commons License

Sebebi açıklanamayan mental retardasyonlu ve veya dismorfik hastalarda array CGH yöntemi ile submikroskobik kromozomal değişikliklerin araştırılması

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.258 Creative Commons License

Entellektüel yetersizlik ve veya konjenital anomalisi olan hastalarda array CGH sonuçlarının değerlendirilmesi

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.261 Creative Commons License

Primer amenoreli olguda array CGH yöntemi ile parsiyel Xp duplikasyonu ve Xq delesyonu saptanması

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics, Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.131 Creative Commons License

Gelişme geriliği ve epilepsisi olan birolguda array CGH sonucu

3. Nörometabolik dismorfoloji sempozyumu, çeşme, Türkiye, 10 - 12 Mart 2016

MECP2 Duplication Syndrome with Additional Findings

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.35 Creative Commons License

Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 15

Medical genetic and Clinical Applications, Erciyes Medical Journal, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.35 Creative Commons License

T102C and 1438 G A Polymorphisms of The Serotonin 2A Receptor Gene in Etiology and Course of Attention Deficit Hyperactivity Disorder

6th International Congress on Psychopharmacology & 2nd International Symposium on Child and Adolescent Psychopharmacology, Antalya, Türkiye, 16 - 20 Nisan 2014, ss.1

Dopamine D4 Receptor Gene and Attention Deficit Hyperactivity Disorder A Follow up Study

International Association for child and adolescent psychiatry and allied professions (IACAPAP) 2012 - 20th World congress, Paris, Fransa, 21 - 25 Temmuz 2012, cilt.60, sa.5, ss.264 Creative Commons License

HEPARAN SULFATE (HSGP2, PERLECAN) GENE POLYMORPHISM IN CALCIUM OXALATE NEPHROLITHIASIS

104th Annual Meeting of the American-Urological-Association, Illinois, Amerika Birleşik Devletleri, 25 - 30 Nisan 2009, cilt.181, ss.660-661 identifier

46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.36 identifier

Severe clinical manifestations with inv(3) (p24p13)dn in a girl

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.55 identifier

The relationship of estrogen receptor gene polymorphism to the extent and severity of coronary artery disease

45th Annual Conference on Cardiovascular Disease Epidemiology and Prevention, Washington, Kiribati, 29 Nisan - 02 Mayıs 2005, cilt.111 identifier

Kitap & Kitap Bölümleri

PERFORMING GENE EDITING USING MISMATCH PRIMERS FOR SICKLE CELL ANEMIA

Health & Science 2024-I, KAYA HAKAN, YAVUZ FETHİ, Editör, Efe Academy Publishing, ss.7-16, 2024

Genetics of Testicular Tumors

Testicular Disorders in Children, Sonme K,Turkyilmaz Z,Atan A,Karabulut R, Editör, Akademisyen Kitabevi, Ankara, ss.215-221, 2023

İnsülin hormonunun genetiği

İnsülin 100 yıllık mucize hormon, ilhan yetkin, Editör, akademisyen, ss.41, 2022

ATLETİK PERFORMANS, GENETİK VE EPİGENETİK ÜÇLÜSÜ

EGZERSİZ FİZYOLOJİSİ ve TEMEL KAVRAMLAR, Doç. Dr. Erdil DURUKAN, Doç. Dr. Mehmet GÖKTEPE, Editör, EfeAkademi Yayınları, İstanbul, ss.44-54, 2022

Retinal Vaskülopatiler ve Genetik

Oküler Genetik, Mehmet Ali Ergün, Fulya Yaylacıoğlu Tuncay, Editör, Türkiye Klinikleri, ss.68-78, 2021

Akraba evliliklerine genetik yaklaşım

Genetik ve Multidisipliner Yaklaşımlar, Semerci Gündüz CN, Editör, Türkiye Klini, ss.81-84, 2019

Metrikler

Yayın

312

Atıf (WoS)

970

H-İndeks (WoS)

16

Atıf (Scopus)

1040

H-İndeks (Scopus)

17

Proje

29

Tez Danışmanlığı

9

Açık Erişim

33
BM Sürdürülebilir Kalkınma Amaçları