Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

The same mutation in a family with adenosine deaminase 2 deficiency

RHEUMATOLOGY INTERNATIONAL, vol.41, no.1, pp.227-233, 2021 (Journal Indexed in SCI) Sustainable Development identifier identifier identifier

H syndrome with a novel homozygousSLC29A3mutation in two sisters

PEDIATRIC DERMATOLOGY, vol.37, no.6, pp.1135-1138, 2020 (Journal Indexed in SCI) Sustainable Development identifier identifier identifier

Cafe noir spots: a feature of familial progressive hyper- and hypopigmentation

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, vol.34, no.2, 2020 (Journal Indexed in SCI) identifier identifier identifier

Peters Plus syndrome: a recognizable clinical entity

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.1, pp.136-140, 2020 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Ophthalmo-acromelic syndrome in an infant

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.7, 2019 (Journal Indexed in SCI) identifier identifier identifier

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

European journal of obstetrics, gynecology, and reproductive biology, vol.221, pp.76-80, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

Anauxetic dysplasia: A rare clinical entity

TURKISH JOURNAL OF PEDIATRICS, vol.60, no.1, pp.89-93, 2018 (Journal Indexed in SCI) Creative Commons License 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) identifier identifier identifier

Articles Published in Other Journals

Responding to COVID-19 in Istanbul: Perspective from genomic laboratory

NORTHERN CLINICS OF ISTANBUL, vol.7, no.3, pp.311-312, 2020 (Journal Indexed in ESCI) Creative Commons License Sustainable Development identifier identifier

The musculoskeletal system manifestations in children with familial Mediterranean fever

NORTHERN CLINICS OF ISTANBUL, vol.7, no.5, pp.438-442, 2020 (Journal Indexed in ESCI) identifier identifier

Monogenic diabetes Monogenik diyabet

Cocuk Sagligi ve Hastaliklari Dergisi, vol.59, no.3, pp.140-151, 2016 (Refereed Journals of Other Institutions) Sustainable Development identifier

Refereed Congress / Symposium Publications in Proceedings

Gilbert Sendromu: Genetik Test Yapılması Gerekli mıdır?

63. TÜRKİYE MİLLİ PEDİATRİ KONGRESİ, Gazi Mağosa, Cyprus (Kktc), 30 October 2019

A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1273-1274 identifier

Stuve-Wiedemann syndrome: a rare clinical entity

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1300-1301 identifier

Vascular ehlers-danlos syndrome

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1279 identifier

GENETIC SCREENING IN PATIENTS WITH UNDIFFERENTIATED PERIODIC FEVER SYNDROME

Annual European Congress of Rheumatology (EULAR), Madrid, Spain, 12 - 15 June 2019, vol.78, pp.974 Creative Commons License identifier

Homozygous novel variant in MUT in a patient with intellectual disability without metabolic derangement

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.932 identifier

Absence of major eye malformations further expands the phenotype of SOX2 deletions

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.500-501 identifier

Ophthalmo-acromelic syndrome in an infant

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.959 identifier