Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic Analysis

ZEITSCHRIFT FUR GEBURTSHILFE UND NEONATOLOGIE, vol.223, no.5, pp.297-303, 2019 (Journal Indexed in SCI) Sustainable Development identifier identifier identifier

An eight-case 1q21 region series: novel aberrations and clinical variability with new features

Journal of Intellectual Disability Research, vol.63, no.6, pp.548-557, 2019 (Journal Indexed in SSCI) identifier identifier identifier

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

European Journal of Obstetrics and Gynecology and Reproductive Biology, vol.221, pp.76-80, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Fetal and Pediatric Pathology, vol.36, no.6, pp.445-451, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

HERC1 mutations in idiopathic intellectual disability

European Journal of Medical Genetics, vol.60, no.5, pp.279-283, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

A novel missense mutation of the GRK1 gene in Oguchi disease

MOLECULAR MEDICINE REPORTS, vol.14, no.4, pp.3129-3133, 2016 (Journal Indexed in SCI) identifier identifier identifier

Etiological yield of SNP microarrays in idiopathic intellectual disability

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.3, pp.327-337, 2014 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Two Siblings With Similar Phenotypes: One of Them Had Ring 20 Chromosome

CLINICAL EEG AND NEUROSCIENCE, vol.44, no.1, pp.58-61, 2013 (Journal Indexed in SCI) identifier identifier identifier

Serum PON-1 Activity but not Q192R Polymorphism is Related to the Extent of Atherosclerosis

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, vol.19, no.4, pp.376-384, 2012 (Journal Indexed in SCI) identifier identifier identifier

CYP1A1 polymorphism in adolescents with polycystic ovary syndrome

INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, vol.112, no.1, pp.8-10, 2011 (Journal Indexed in SCI) identifier identifier

CYP1A1 gene polymorphism and polycystic ovary syndrome

REPRODUCTIVE BIOMEDICINE ONLINE, vol.16, no.3, pp.356-360, 2008 (Journal Indexed in SCI) identifier identifier identifier

Factor V Leiden mutation and type 1 diabetes mellitus

BLOOD COAGULATION & FIBRINOLYSIS, vol.19, no.1, pp.70-74, 2008 (Journal Indexed in SCI) Sustainable Development identifier identifier identifier

Articles Published in Other Journals

Reduced irisin levels in patients with acromegaly

HORMONE MOLECULAR BIOLOGY AND CLINICAL INVESTIGATION, 2022 (Journal Indexed in ESCI) identifier identifier

Gorlin Syndrome in Eleven Patients

JOURNAL OF PEDIATRIC RESEARCH, vol.4, no.2, pp.63-67, 2017 (Journal Indexed in ESCI) Sustainable Development identifier

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.46, no.6, pp.299-300, 2016 (Journal Indexed in ESCI) identifier identifier

Refereed Congress / Symposium Publications in Proceedings

The Skeletal Dysplasia Registry: Hacettepe Experience

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019

SECONDARY VASCULITIS DUE TO SINGLE GENE DEFECTS

19th International Vasculitis and ANCA Workshop, Pennsylvania, United States Of America, 7 - 10 April 2019, vol.58 identifier

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

57th Annual ESPE European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, vol.90, pp.351-352

IGF1 Receptor Deletion is a Rare Cause of Prenatal Onset Short Stature.

International Congress of the Growth Hormone Research IGF Societies, Sep 14 - 17, 2018, Seattle, Washington, United States of America., 14 - 17 September 2018

Metabolic Infrastructure of Pregnant Women with Down Syndrome

Seventh Congress of the South East European Society of Perinatal Medicine, 10 May 2018 - 12 January 2019 Sustainable Development

6p25.3 delesyonu

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Juvenil Paget Hastalığı

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Cyprus (Kktc), 29 - 30 June 2017

Association between Klotho gene polymorphisms, circulating Klotho and FGF23 levels and echocardiographic parameters among patients with acromegaly.

ENDO 2017, The Endocrine Society’s 99th Annual Meeting and Expo., Orlando, United States Of America, 1 - 04 April 2017, vol.38

Erişkin dönemde tanı alan Williams sendromu vakası

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Roberts SC Phocomelia Syndrome A Rare Clinical Entity

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

APPLICATION OF A CYTOGENETIC PROGRESSION SCORE (GPS), TUMOR LOCATION, AND GENETIC PROGRESSION IN MENINGIOMAS: HACETTEPE EXPERIENCE

3rd Quadrennial Meeting of the World-Federation-of-Neuro-Oncoloyg/6th Meeting of the Asian-Society-for-Neuro-Oncology, Yokohama, Japan, 11 - 14 May 2009, vol.11, pp.964-965 identifier

Books & Book Chapters