Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, cilt.65, sa.6, ss.577-588, 2021 (SSCI İndekslerine Giren Dergi) identifier identifier identifier

The same mutation in a family with adenosine deaminase 2 deficiency

RHEUMATOLOGY INTERNATIONAL, cilt.41, sa.1, ss.227-233, 2021 (SCI İndekslerine Giren Dergi) identifier identifier identifier

H syndrome with a novel homozygousSLC29A3mutation in two sisters

PEDIATRIC DERMATOLOGY, cilt.37, sa.6, ss.1135-1138, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, cilt.34, sa.2, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Peters Plus syndrome: a recognizable clinical entity

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.1, ss.136-140, 2020 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

Ophthalmo-acromelic syndrome in an infant

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.62, sa.7, 2019 (SCI İndekslerine Giren Dergi) 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, cilt.221, ss.76-80, 2018 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Anauxetic dysplasia: A rare clinical entity

TURKISH JOURNAL OF PEDIATRICS, cilt.60, sa.1, ss.89-93, 2018 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

HERC1 mutations in idiopathic intellectual disability

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.60, sa.5, ss.279-283, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Coexistence of Trisomy.. and SRY (-) XX Ovotesticular Disorder of Sex Development

FETAL AND PEDIATRIC PATHOLOGY, cilt.36, sa.6, ss.445-451, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

The musculoskeletal system manifestations in children with familial Mediterranean fever

NORTHERN CLINICS OF ISTANBUL, cilt.7, sa.5, ss.438-442, 2020 (ESCI İndekslerine Giren Dergi) identifier identifier

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

NORTHERN CLINICS OF ISTANBUL, cilt.7, sa.3, ss.311-312, 2020 (ESCI İndekslerine Giren Dergi) Creative Commons License identifier identifier

Monogenic diabetes Monogenik diyabet

Cocuk Sagligi ve Hastaliklari Dergisi, cilt.59, sa.3, ss.140-151, 2016 (Diğer Kurumların Hakemli Dergileri) identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Gilbert Sendromu: Genetik Test Yapılması Gerekli mıdır?

63. TÜRKİYE MİLLİ PEDİATRİ KONGRESİ, Gazi Mağosa, Kıbrıs (Kktc), 30 Ekim 2019

A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1273-1274 identifier

Vascular ehlers-danlos syndrome

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1279 identifier

Stuve-Wiedemann syndrome: a rare clinical entity

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1300-1301 identifier

GENETIC SCREENING IN PATIENTS WITH UNDIFFERENTIATED PERIODIC FEVER SYNDROME

Annual European Congress of Rheumatology (EULAR), Madrid, İspanya, 12 - 15 Haziran 2019, cilt.78, ss.974 Creative Commons License identifier

Ophthalmo-acromelic syndrome in an infant

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.959 identifier

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

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.932 identifier

RSPRY1-associated skeletal dysplasia: Spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.249-250 identifier

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

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.500-501 identifier