SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Whole exome sequence analysis in patients with non-ischemic dilated cardiomyopathy
ANATOLIAN JOURNAL OF CARDIOLOGY
, cilt.26, 2022 (SCI-Expanded)
Inherited eye diseases in Turkey: Current approaches and future directions
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
, cilt.184, sa.3, ss.773-781, 2020 (SCI-Expanded)
A rare etiology of epileptic encephalopathy: HECW2 mutations
European Journal Of Human Genetics
, cilt.27, ss.1435, 2019 (SCI-Expanded)
Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient
European Journal Of Human Genetics
, cilt.27, ss.384-385, 2019 (SCI-Expanded)
Eight new patient with autosomal recessive hereditary spastic paraplegia diagnosed via WES analysis
BALKAN MEDICAL JOURNAL
, cilt.22, sa.1, ss.207, 2019 (SCI-Expanded)
Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?
European Journal Of Human Genetics
, cilt.26, ss.466, 2018 (SCI-Expanded)
A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization
European Journal Of Human Genetics
, cilt.26, ss.998, 2018 (SCI-Expanded)
A novel RYR 1 gene mutation in a patient with severe central core disease
European Journal Of Human Genetics
, cilt.26, ss.423-424, 2018 (SCI-Expanded)
Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing
TURKISH JOURNAL OF MEDICAL SCIENCES
, cilt.48, ss.386-390, 2018 (SCI-Expanded)
The evaluation of long-term effects of ionizing radiation through measurement of current sister chromatid exchange (SCE) rates in radiology technologists, compared with previous SCE values
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
, cilt.757, sa.1, ss.28-30, 2013 (SCI-Expanded)
Analysis of GNAL polymorfisms in attention deficit hyperactivity disorder
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
, cilt.22, 2013 (SCI-Expanded)
Comparison of radiation induced damage between computed tomography angiography and conventional coronary angiography
EUROPEAN HEART JOURNAL
, cilt.32, ss.522, 2011 (SCI-Expanded)
A CASE WITH PARTIAL TRISOMY 4Q (Q25-QTER): X42
Clinical Genetics
, cilt.78, ss.42, 2010 (SCI-Expanded)
JAK2 V617F MUTATION IN HEMATOLOGICAL DISORDERS IN TURKISH POPULATION: C04
Clinical Genetics
, cilt.78, ss.4, 2010 (SCI-Expanded)
Investigation of CTLA4 gene polymorphisms in children and adolescents with autoimmune Thyroid disease
HORMONE RESEARCH
, cilt.70, ss.166, 2008 (SCI-Expanded)
Preimplantation genetic diagnosis in two couples with balanced reciprocal translocations
EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY
, cilt.134, sa.1, ss.126-127, 2007 (SCI-Expanded)
Severe clinical manifestations with inv(3) (p24p13)dn in a girl
Chromosome Research
, cilt.15, ss.55, 2007 (SCI-Expanded)
A girl with a mosaic ring chromosome 18
Chromosome Research
, cilt.15, ss.64-65, 2007 (SCI-Expanded)
A neonate with omphalocele and patent ductus arteriosus with a 46,XX,t(1;2)(q42;q32) karyotype
Chromosome Research
, cilt.15, ss.65, 2007 (SCI-Expanded)
46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?
Chromosome Research
, cilt.15, ss.36, 2007 (SCI-Expanded)
Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study
Genetic Counseling
, cilt.17, sa.2, ss.219-230, 2006 (SCI-Expanded)
Familial reciprocal translocation and derivative chromosome 10 in an abortion material
CYTOGENETICS AND CELL GENETICS
, cilt.85, sa.1-2, ss.171-172, 1999 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
Evaluation of Association between PPARGC1A Gene Polymorphism and Competitive Performance of Elite Athletes
Gazi Beden Eğitimi ve Spor Bilimleri Dergisi (Online)
, cilt.27, sa.4, ss.323-332, 2022 (Hakemli Dergi)
KOŞUCULARDA ACTN3 VE ACE GENLERİNİN SPORTİF PERFORMANSA ETKİSİ
İnönü Üniversitesi Beden Eğitimi ve Spor Bilimleri Dergisi
, cilt.7, sa.1, 2020 (Hakemli Dergi)
Prediktif ve Presemptomatik Tarama
Türkiye Klinikleri Tıbbi Genetik - Özel Konular
, ss.65-68, 2020 (Hakemsiz Dergi)
Editörlerden
Gazi Medical Journal
, 2020 (ESCI)
Sportif Performans ve BDNF İlişkisi
Gazi Medical Journal
, cilt.31, sa.4, 2020 (ESCI)
COVID-19 Special Number OunceCOVID-19 Special Issue
GAZI MEDICAL JOURNAL
, cilt.31, sa.2A, 2020 (ESCI)
A combined oxidative phosphorylation deficiency 10 case in a non-consanguineous family.
Erciyes Medical Journal
, cilt.41, ss.50-51, 2019 (Hakemli Dergi)
Prenatal and Postnatal Clinical Spectrum of a Mosaic Small Supernumerary Marker Chromosome 22
International Journal of Pediatrics and Child Health
, cilt.7, ss.36-39, 2019 (Hakemli Dergi)
ADNP Gene in the Etiology of Syndromic Autism: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
A rare form of interstitial deletion of chromosome 9q21.33q22.31: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
The Pathogenic Role of Xp22.31 copy number variations and literarure review
Gazi medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
Akraba Evliliklerine Genetik Yaklaşım
Türkiye Klinikleri Tıbbi Genetik-Özel Konular
, cilt.81, sa.4, 2019 (Hakemsiz Dergi)
A PATIENT WITH TWO SYNDROMES DUE TO PATERNALUNIPARENTAL DISOMY OF CHROMOSOME 2 (pUPD2)RELATED WITH HOMOZYGOUS NOVEL MUTATIONS OF THERAB3GAP1 AND UNC80 GENES
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
HAPLOINSUFFICIENCY OF ZNF462 GENE IN A PATIENT WITHINTERSTITIAL DELETION OF CHROMOSOME 9q
Erciyes Medical Journal
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
Lethal Multıple Pterygıum Syndrome related wıth RYR1 gene gene mutatıon
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
A new method for analysıs of exome sequencıng data dependıng on varıant prıorıtızatıon
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
Haploınsuffıcıency of ZNF462 gene ın a patıent wıth ınterstıtıal deletıon of chromosome 9q
ERCIYES TIP DERGISI
, cilt.40, sa.2, ss.51, 2018 (Scopus)
Lethal multiple pterygıum syndrome related with RYR1 gene mutation
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
LETHAL MULTIPLE PTERYGIUM SYNDROME RELATED WITHRYR1 GENE MUTATION
Erciyes Medical Journal
, cilt.40, sa.2, ss.70-73, 2018 (Hakemli Dergi)
Normal Karyotipe Sahip Usg Anomalisi Olan Fetüslerde Kromozomal Mikroarray Ve Yeni Nesil Dizi Analizi
Turkiye Klinikleri Journal of Medical Genetics
, cilt.3, sa.1, ss.70-73, 2018 (Hakemli Dergi)
A report of two infertile patients with isodicentric short arm of chromosome Y
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.51, 2017 (Hakemli Dergi)
Prenatal diagnosis of a complex chromosomal rearrangement by the usage of conventional and array karyotyping
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.70, 2017 (Hakemli Dergi)
Molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15
ERCIYES MEDICAL JOURNAL
, cilt.38, sa.1, ss.35, 2016 (Hakemli Dergi)
Clinical findings in patients with9q deletion encompasing the 9q21 11q21 32 region
ERCIYES MEDICAL JOURNAL
, cilt.38, sa.1, ss.14, 2016 (Hakemli Dergi)
Investigation of CYP2D6 gene polymorphisms in Turkish Population
Psychopharmacology Bulletin
, cilt.46, sa.1, ss.67-72, 2016 (Scopus)
A Qualitative Evaluation of the Knowledge Levels of Nurses Regarding Informatics and Health Informatics The Case of Atatürk Training and Research Hospital
International Journal of Caring Sciences
, cilt.8, sa.3, ss.555-566, 2015 (Hakemli Dergi)
Investigation of enyzme levels in the mutation of the pseudocholinesterase gene ASP70GLY in Turkish populatioN
Anestezi Dergisi
, cilt.21, ss.157-159, 2013 (Scopus)
Kromozomal Bozukluklara Bağlı Oluşan SendromlarSyndromes Related with Chromosomal Abnormalities
Turkiye Klinikleri J Orthop Traumatol-Special Topics
, cilt.5, sa.2, ss.8-11, 2012 (Hakemsiz Dergi)
Kromozomal Bozukluklara Bağlı Oluşan Sendromlar
Türkiye Klinikleri Ortopedi Travmatoloji-Özel Konular
, cilt.5, sa.2, 2012 (Hakemsiz Dergi)
Caspase levels in the evaluation of apoptosis in vitiligo patients
GAZI MEDICAL JOURNAL
, cilt.21, ss.81-83, 2010 (Scopus)
İnsan Epidermoid Larinks Karsinom Hep 2 Hücre Serisinde Resveratrol ün Apoptotik Etkisi
GAZI MEDICAL JOURNAL
, cilt.8, ss.117-120, 2007 (Scopus)
Türk Toplumunda Tip I Mukopolisakkaridoz un Moleküler Analizi
Turkiye Klinikleri J Pediatr Sci
, cilt.1, ss.127-128, 2005 (Hakemli Dergi)
Prenatal Diagnosis of A Fetus with Distal Trisomy 10q and the Importance of Genetic Counselin
Kocatepe Tıp Dergisi
, cilt.6, ss.57-58, 2005 (Hakemli Dergi)
The importance of genetic counseling in couples complaining from habitual abortions
GORM (Gynecology Obstetrics Reproductive Medicine)
, cilt.11, ss.90-92, 2005 (Hakemli Dergi)
Chromosomes of a Balanced Translocation Case Evaluated with Atomic Force Microscopy
Journal of Cell and Molecular Biology
, cilt.2, ss.39-42, 2003 (Hakemli Dergi)
Chromosomal Abnormalities in Habitual Abortions A Study of 192 Couples
Gülhane Tıp Dergisi
, cilt.44, ss.40-42, 2002 (Hakemli Dergi)
Retrospektif Olarak 450 Hastanın Sitogenetik Değerlendirilmesi
Kadın Doğum Dergisi
, cilt.1, ss.142-144, 2002 (Hakemli Dergi)
Visualizing Robertsonian Translocation with Atomic Force Microscopy
GAZI MEDICAL JOURNAL
, cilt.10, ss.110-113, 1999 (Scopus)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
Klinikte Stargardt Hastalığı Tanısı Alan Hastaların Genotip Değerlendirmesi: Türkiye'den Yeni Varyantlar
TOD 57. ulusal kongre, Antalya, Türkiye, 8 - 12 Kasım 2023, ss.819
Cerrahi tedavi uygulanan familyal eksudatif vitreoretinopati hastalarında fonksiyonel ve anatomik sonuçların incelenmesi
TÜRK OFTALMOLOJİ DERNEĞİ 57. ULUSAL KONGRE, 08 Kasım 2023
Herediter Spastik Parapleji Ön Tanılı Hastalarda Etiyolojinin Tüm Ekzom Dizi Analizi Verileriyle Retrospektif Olarak Değerlendirilmesi
15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.41
Dismorfik Bir Olguda Tersiyer Trizomi 9P ve Trizomi 9Q
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.247
Nadir bir MODY alt tipi: CEL-MODY olgusu
Endokurs 6 Mezuniyet Sonrası Eğitim Kursu, Adana, Türkiye, 14 - 16 Ekim 2022, ss.60
Tıbbi Genetik Uzmanlığı Gelecek Perspektifi
XII. Ulusal Tıp Eğitimi Kongresi, Türkiye, 19 Mayıs 2022
Evalution of the Neurodevelopmental Effects and Mechanisms of Phthalates in Glial Cell Culture
Global Migraine and Pain Summit, 5th MENA Meeting 3rd Turkish African Meeting of Headache and Pain Management, Antalya, Türkiye, 27 - 30 Ekim 2021, cilt.38, sa.1, ss.2
SMN1 gen delesyonu dışlanmış Spinal Musküler Atrofi ön tanılı çocuklarda etiyolojinin tüm ekzom dizi analizi verilerine dayanarak retrospektif olarak araştırılması.
14. Ulusal Tıbbi Genetik Kongresi“Uluslararası Katılımlı”, Türkiye, 20 - 22 Kasım 2020
CYP2D6 Polimorfizminin postoperatif ağrı sürecinde değerlendirilmesi
Türk Anesteziyoloji ve Reanimasyon Kongresi, Türkiye, 7 - 10 Kasım 2019
CYP2D6 Polimorfizminin Postoperatif Ağrı Tedavisi Sürecinde Değerlendirilmesi
53. Türk Anesteziyoloji ve Reanimasyon Kongresi (TARK), Antalya, 7 - 10 Kasım 2019
SLC25A4 ilişkili bir aksiyel miyopati olgusu: Yeni bir fenotip
3. Nöromusküler Hastalıklar Kongresi, 1-3 Kasım 2019, Çeşme, İzmir, Türkiye, 1 - 03 Kasım 2019
Branchiaootorenal sendromu (BOR) EYA1,SIX1, SIX5 genleri mutasyon analizi ve aileselsegregasyon
Uluslararası Katılımlı Tıbbi Biyoloji ve Genetik Kongresi, Türkiye, 27 - 30 Ekim 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
Mutational analysis of EYA1, SIX1 and SIX5 genes in a Turkish family with Branchiootorenal (BOR) syndrome
35th Ernst Klenk Symposium in Molecular Medicine, KÖLN, Almanya, 15 - 17 Eylül 2019, ss.77
A new approach (EDIZ) for Big Data Variant Prioritization
13th balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019
The pathogenic role of Xp22.31 copy number variations and literature review
13. ulusal tıbbi genetik kongresi, Türkiye, 7 - 10 Kasım 2018
A mosaic double aneuploidy: mos 45,X/47,XX,18 with mild phenotype
European Human Genetics Conference, Milano, İtalya, 16 - 19 Haziran 2018
Copy number variation analysis in autism spectrum disorders
european human genetics conference, 16 - 20 Haziran 2018
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
P09.023C / C - Copy number variation analysis in autism spectrum disorders
ESHG 2018, 16 - 19 Haziran 2018
Dikkat Eksikliği Hiperaktivite Bozukluğunda CDK5 ve ITGA1 Gen Polimorfizmleri: Türk Toplumunda Sıklıkları ve Yönetici İşlevlerle İlişkileri
Prof. Dr. Selahattin Şenol 4. Bahar Okulu, Ankara, Türkiye, 29 Mart - 01 Nisan 2018, ss.52-55
E-P16.30 - A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization
European Human Genetics Conference Cophenagen, Denmark, 27 - 30 Mayıs 2017
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
P11.034B/B - Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?
European Human Genetics Conference, Cophenhagen, Denmark, 27 - 30 Mayıs 2017
Hücre Kültüründe Hipoksinin ve Hipotermik Önşartlamanın Glial Demir Homeostazı ve Demir Taşıyıcı Proteinler Üzerine Etkileri
Ulusal Sinirbilim Kongresi, Türkiye, 7 - 10 Mayıs 2017
Hücre Kültüründe Hipoksinin ve Hipotermik Önşartlamanın Glial Demir Homeostazı ve Demir Taşıyıcı Proteinler Üzerine Etkileri
Ulusal Sinirbilim Kongresi, Türkiye, 7 - 10 Mayıs 2017
Entellektüel yetersizlik ve veya konjenital anomalisi olan hastalarda array CGHsonuçları
12. ulusal tıbbi genetik kongresi, Türkiye, 5 - 09 Ekim 2016
The Relation between Micropenis in Childhood and CAG with GGN Repeat Polymorphisms in the Androgen Receptor Gene
XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Türkiye, 5 - 09 Ekim 2016
Association of Pro renin Receptor Gene Polymorphism With Hypertensive Disorders Of Pregnancy
15th World Congress in Fetal Medicine, Mallorca, SPAIN, 26 - 30 Haziran 2016
Whole Exome Sequencing reveals a mutation in an osteogenesis imperfecta patient
European Society of Human Genetics 2016, 21 - 24 Mart 2016
Gelişme geriliği ve epilepsisi olan birolguda array CGH sonucu
3. Nörometabolik dismorfoloji sempozyumu, çeşme, Türkiye, 10 - 12 Mart 2016
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
İyonize radyasyonun radyoloji teknisyenleri üzerindeki uzun dönem etkilerinin SCE analizi ile değerlendirilmesi: Önceki ve mevcut SCE değerlerinin karşılaştırılması.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012
The evaluation of long term effects of ionizingradiation through measurement of current sister chromatid exchange SCE rates in radiologytechnologists compared with previous SCE values
Ulusal tıbbi Genetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 Aralık 2012
Chromosomal Array AnalysisReveals Partial 11q Duplication and Partial 12p Deletion in A Mildly Affected Case
10. Ulusal tıbbiGenetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 Aralık 2012
Kromozomal yeniden düzenlenmelerde moleküler karyotipleme ile genotip fenotip ilişkisinin belirlenmesi
11. Ulusal Tıbbi genetil Kongresi, İstanbul, Türkiye, 24 - 27 Eylül 2014
Effects of ginkgo biloba EGb 761 treatment on 2 1 GHz microwave radiation induced mutagenicity in human lymphocytes
4th International Congress on Cell Membranes and Oxidative Stress: Focus on Calcium Signaling and TRP Channels, 26 - 29 Haziran 2012
Gazi Üniversitesi Tıp Fakültesi Araştırma Görevlilerinin Mezuniyet Öncesi Tıp Eğitimine ilişkin Görüşleri
UTEK 2012 VII Tıp Eğitimi Kongresi, Türkiye, 2 - 05 Mayıs 2012
Comparison of radiation induced damage between computed tomography angiography and conventional coronary angiography
Euroean society of cardiology congress, 27 - 31 Ağustos 2011
Modülasyonlu Radyofrekans Radyasyon uygulamasının İnsan Kan Lenfositleri üzerindeki Mutagenetik Etkileri
22. Ulusal Biyofizik Kongresi, Türkiye, 28 Eylül - 01 Ekim 2010
A comprehensive analysis of e government studies in Turkey problems and suggestions
The IADIS WWW/Internet 2009 Conference, 19 - 22 Kasım 2009, ss.175-179
Gazi Üniversitesi Tıp Fakültesi Kanıta Dayalı Tıp Dönem IV Poster Uygulamaları
UTEK 08 IV. Ulusal Tıp Eğitimi Kongresi, Türkiye, 6 - 09 Mayıs 2009
De Novo Inv Dup Del (8p) Olan Dismorfik Bir Vakanın Sunumu.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008
Dinocap Fungisitinin İnsan Periferal Lenfositlerinde Genotoksik Etkileri
XVII. Ulusal Biyoloji Kongresi, Adana, Türkiye, 21 - 24 Haziran 2004
Kitap & Kitap Bölümleri
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
Akraba evliliklerine genetik yaklaşım
Genetik ve Multidisipliner Yaklaşımlar, Semerci Gündüz CN, Editör, Türkiye Klini, ss.81-84, 2019