Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Diğer Dergilerde Yayınlanan Makaleler

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Molecular Diagnosis of TYR Negative Albinism Patients by Clinical Exome Sequencing

54th Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 28 - 31 Ağustos 2021, ss.118 identifier

Screening TYR gene variations in Turkish oculocutaneuse albinism patients

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1233-1234 identifier

Does my expertise still make a difference? A single-clinician's experience of genomic sequencing in 120 pediatric patients

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1506-1507 identifier

The Skeletal Dysplasia Registry: Hacettepe Experience

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norveç, 11 - 14 Eylül 2019

Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene

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.916-917 identifier

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challange

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.97 identifier

Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry

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.130 identifier

Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients

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.150 identifier

Possible effect of IGFR1 gene on macrocephaly in a patient with unbalanced 6;15 translocation with 6p25 deletion and 15q26 duplication

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.992 identifier

Baraitser-Winter Syndrome in a boy with heterozygous missense mutation in the ACTB gene

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.956 identifier

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, Kıbrıs (Kktc), 29 - 30 Haziran 2017

Spotlight on the pathogenesis of Kabuki syndrome

European Human Genetics Conference - ESHG 2015, Glasgow, Scotland, UK, 6 - 09 Haziran 2015

Spotlight on the pathogenesis of Kabuki syndrome

ESHG 2015, 6-9 June 2015, Glasgow, Scotland, United Kingdom., 6 - 09 Haziran 2015

Metabolik Sendrom Carnevale Sendrom Birlikteliği Vaka Sunumu

15.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, İzmir, Türkiye, 23 - 26 Kasım 2011

Cabezas Sendromu

15. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, İzmir, Türkiye, 23 - 26 Kasım 2011

BİR SPONDİLO ENDONDRO DİSPLAZİ VAKASI

14. Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Muğla, Türkiye, 4 - 10 Ekim 2010

Partial monosomy of distal 6q

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70 identifier

Two patients with distal partial trisomy 1q

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70-71 identifier

Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.96 identifier

Chromosomal abnormalities presented with seizures

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.84 identifier

Unilateral peters' anomaly type I in an infant with 22q11.2 deletion syndrome

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.100 identifier

Bloom syndrome in a child with severe short stature and wilms tumor

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.142-143 identifier

Kitap & Kitap Bölümleri

Akondroplazi

Çocuk Genetik Hastalıkları, Mıhçı, Ercan, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.66-71, 2021

Genetik Danışma

Cerebral Palsy ve Genetik, Özbek Uğur, Akçakaya Nihan Hande, Editör, Boyut Yayınevi, İstanbul, ss.57-65, 2019

Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları

Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitabevi, Ankara, ss.2024-2047, 2017