SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature
GENETIC TESTING AND MOLECULAR BIOMARKERS
, cilt.25, sa.6, ss.445-451, 2021 (SCI-Expanded)



Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
Expanding of mutation spectrum in Muscular Dystrophies: A Turkish Cohort
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.435-436, 2020 (SCI-Expanded)

Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.1012-1013, 2020 (SCI-Expanded)

Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.214, 2019 (SCI-Expanded)

Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.215, 2019 (SCI-Expanded)

Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population
Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.175-176, 2016 (SCI-Expanded)

Lack of Association between IL-6 gene polymorphisms and Severity and Age Onset of Rheumatoid Arthritis
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
, cilt.32, sa.4, 2014 (SCI-Expanded)

Multiple sclerosis: association with the interleukin-1 gene family polymorphisms in the Turkish population
INTERNATIONAL JOURNAL OF NEUROSCIENCE
, cilt.123, sa.10, ss.711-718, 2013 (SCI-Expanded)



Assessment of Interleukin-1 Gene Cluster Polymorphisms in Lone Atrial Fibrillation: New Insight into the Role of Inflammation in Atrial Fibrillation
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
, cilt.36, sa.10, ss.1220-1227, 2013 (SCI-Expanded)



Lack of association between IL-6 gene polymorphisms and rheumatoid arthritis in Turkish population
Association between sporadic Parkinson disease and interleukin-1 beta-511 gene polymorphisms in the Turkish population
Novel Growth Hormone Receptor Gene Mutation in a Patient with Laron Syndrome
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.23, sa.4, ss.407-414, 2010 (SCI-Expanded)



Interleukin-1 Receptor Antagonist Gene VNTR Polymorphism is Associated with Coronary Artery Disease
ARQUIVOS BRASILEIROS DE CARDIOLOGIA
, cilt.91, sa.5, ss.268-273, 2008 (SCI-Expanded)



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Interleukin-1B (-511) gene polymorphism is associated with acute coronary syndrome in the Turkish population
Characterization of GH-N mutations in children with isolated growth hormone deficiency in Turkish population
HORMONE RESEARCH
, cilt.70, ss.197, 2008 (SCI-Expanded)

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.21, sa.1, ss.47-58, 2008 (SCI-Expanded)



Diğer Dergilerde Yayınlanan Makaleler
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
Two new cases diagnosed with Hermansky-Pudlak Syndrome
ESHG 2021 Virtual Congress, 28 Ağustos 2021
Nadir bir iskelet displazisi: Piknodizostoz tanısı alan iki kız kardeş
4. Ulusal Çocuk genetik kongresi, Türkiye, 25 - 27 Eylül 2019
Schaaf Yang sendromu
4. Ulusal Çocuk Genetik kongresi, İstanbul, Türkiye, 25 - 27 Eylül 2019
Rare Causes of Osteogenesis Imperfecta are Commonin Consanguineous Pedigrees
European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Avusturya, 19 - 21 Eylül 2019
Von Hippel Lindau Patients
13. BALKAN GENETİK KONGRESİ, Edirne, Türkiye, 16 - 20 Nisan 2019
MARFAN SYNDROME: GENOTYPE-PHENOTYPE CORRELATIONS
13 Balkan Congress of Human Genetics, 17 - 20 Nisan 2019
A cohort of patients with hypertrophic and dilated cardiomyopathy
13 Balkan Congress of Human Genetics, 17 - 20 Nisan 2019
TWO NOVEL MUTATIONS IN THREE DIFFERENT GENES ASSOCIATED WITHRETINITIS PIGMENTOSA/LEBER CONGENITAL AMAROSIS IN ONE PATIENT
13. BALKAN GENETİK KONGRESİ, Edirne, Türkiye, 16 - 20 Nisan 2019
LAMM syndrome: Two new patients , one novel mutation and one new mechanism
13 Balkan Congress of Human Genetics, 17 - 20 Nisan 2019
NOVEL RAB3GAP1INTRONIC MUTATION CAUSING WARBURGG MICRO SYNDROME IN TWO PATIENTS
13 ULUSAL TIBBİ GENETİK KONGRESİ, Türkiye, 7 - 11 Kasım 2018
Genetic analysis results of a patient cohort diagnosed with arrhythmia
13 ULUSAL TIBBİ GENETİK KONGRESİ, Türkiye, 7 - 11 Kasım 2018
Chromosomal array-CGH analysisin patients having neurodevelopmental delay and dysmorphic features
13 ULUSAL TIBBİ GENETİK KONGRESİ, Türkiye, 7 - 11 Kasım 2018
A further case of autosomal recessive brachyolmia having a novel mutation in PAPSS2 gene
13 ULUSAL TIBBİ GENETİK KONGRESİ, Antalya, Türkiye, 7 - 11 Kasım 2018
Genetic analysis results of the patient cohort diagnosed with cardiomyopathy
13 ULUSAL TIBBİ GENETİK KONGRESİ, Türkiye, 7 - 11 Kasım 2018
The Effects of Growth Hormone on Motor Findings and Neuronal Morphology in Parkinson Model Rats
1 International Mediterrean Anatomy Congress, Konya, Türkiye, 6 - 09 Eylül 2018
A novel intronic ATM genemutation a×ecting splicing in a patient withAtaxia-Telangiectasia
ESHG2018, 16 - 19 Haziran 2018
The effects of growth hormone on motor findings andneuronal morphology in Parkinson model rats
16.Ulusal Sinirbilim Kongresi, İstanbul, Türkiye, 20 - 23 Mayıs 2018, cilt.12
BBS10 frameshift mutation in a Turkish girl with Bardet Biedl Syndrome.
The European Society of Human Genetics, European Human Genetics Conference, 27 - 30 Mayıs 2017
Evaluation of BRCA1/BRCA2 test results for Turkish breast cancer families.
The European Society of Human Genetics, European Human Genetics Conference, 27 - 30 Mayıs 2017

BBS10 frameshift mutation in a turkish girl with bardet biedl syndrome
The European Society of Human Genetics 2017, KOPENHAGEN, Danimarka, 25 - 30 Mayıs 2017
Evaluation of BRCA1/2 test results for Turkish breast cancer families.
The European Society of Human Genetics 2017, KOPENHAGEN, Danimarka, 25 - 30 Mayıs 2017

Identification of a novel homozygous deletion of the tyrosinase gene in a Turkish family with oculocutaneous albiinism type 1
Erciyes Medical Genetics Days, Türkiye, 11 - 13 Mayıs 2017
Beckwith Wiedemann sendromlu olgunun klinik bulguları ve moleküler tanısı
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Geç tanı almış Williams sendromlu üç olgunun klinik değerlendirmesi
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Nadir görülen bir genetik sendrom: Meacham sendromu
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Von Hippel -Lindau sendromu ailesindeki asemptomatik 3 çocoğun genetik test sonuçlarının değerlendirilmesi
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Silver Russel Sendromlu bir olgu
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Chromosome 17p11.2 deletion in a Turkish girl with Smith -Magenis Syndrome
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Clinical Evaluation of a MDC1A Case Carrying LAMA2 Mutation
ULUSAL TIBBİ GENETİK KONGRESİ, İZMİR ÇEŞME, Türkiye, 5 - 09 Ekim 2016
Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes
55th Annual Meeting of the ESPE, Paris, 10 - 12 Eylül 2016, cilt.86, ss.175-176
A case of Weaver Syndrome caused by a novel frameshift EZH2 mutation
European Society of Human Genetics, 21 - 24 Mayıs 2016
A novel splice site JAG1 mutation in a Turkish girl with Alagille Syndrome
European Society Of Human Genetics Congress, Barcelona, İspanya, 21 - 24 Mayıs 2016
NO ASSOCIATION BETWEEN IL6R RS 8192284 POLYMORPHISM AND SUBTYPES OF MULTIPLE SCLEROSIS IN TURKISH POPULATION
Pharmacogenomics, 27 - 28 Kasım 2015
Lack of the association between il6r rs 8192284 polymorphism and atrial fibrillation af in turkish population
Pharmacogenomics, 27 - 28 Kasım 2015
Association between IL6R rs 8192284 polymorphism and coronary artery disease in turkish population
Pharmacogenomics, 27 - 28 Kasım 2015
Determination of relationship between rheumatoid arthritis disease and il 6r gene polymorphism in turkish population
Pharmacogenomics, 27 - 28 Kasım 2015
Hormone Treatment for Parkinson Disease The Effect of Growth Hormone Treatment on the 6 OHDA Model of Parkinson s Disease
XXIV ınternational Symposium and on Morpholagical Sciences, 2 - 06 Eylül 2015
The Effect Of Growth Hormone on the 6 Ohda Model of Parkinson s Disease
International Symposium on Morphological Sciences, 2 - 06 Eylül 2015
A Case of Sotos Syndrome with a Novel Mutation of NSD1 Gene
European Society ofHuman Genetics, 6 - 09 Haziran 2015
Büyüme Hormonu Reseptör geninde geniş bir delesyonun neden olduğu laron sendromu olgusu
Çocuk Endokrinoloji Olgu Sunumları, Türkiye, 8 - 09 Mayıs 2015
Alt extremite hemihipertrofisi olan bir Prader Willi Sendromu Olgusu
11. Ulusal Tıbbi Genetik Kongresi, Türkiye, 24 - 27 Eylül 2014
Duchenne Musküler Distrofi DMD tipik klinik bulguları olan ve DMD geninde nonsense mutasyon saptanan olgu
11. Ulusal Tıbbi Genetik Kongresi, Türkiye, 24 - 27 Eylül 2014
FBN1 mutasyonu ve tipik klinik bulguları olan Marfan sendromlu üç olgu
11. Ulusal Tıbbi Genetik Kongresi, Türkiye, 24 - 27 Eylül 2014