SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, ss.895, 2020 (SCI-Expanded)
Congenital generalized lipodystrophy type 4-New mutation in the CAVIN1 gene
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.303-304, 2019 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
A report of two siblings diagnosed with Cutis Laxa
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
Two patients with Epidemolisis Bullosa
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
Two new patients diagnosed with Trichothiodystrophy type 1
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
A rare form of interstitial deletion of chromosome 9q21.33q22.31: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
ADNP Gene in the Etiology of Syndromic Autism: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
Haploınsuffıcıency of ZNF462 gene ın a patıent wıth ınterstıtıal deletıon of chromosome 9q
ERCIYES TIP DERGISI
, cilt.40, sa.2, ss.51, 2018 (Scopus)
Lethal multiple pterygıum syndrome related with RYR1 gene mutation
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
HAPLOINSUFFICIENCY OF ZNF462 GENE IN A PATIENT WITHINTERSTITIAL DELETION OF CHROMOSOME 9q
Erciyes Medical Journal
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
Lethal Multıple Pterygıum Syndrome related wıth RYR1 gene gene mutatıon
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
LETHAL MULTIPLE PTERYGIUM SYNDROME RELATED WITHRYR1 GENE MUTATION
Erciyes Medical Journal
, cilt.40, sa.2, ss.70-73, 2018 (Hakemli Dergi)
A PATIENT WITH TWO SYNDROMES DUE TO PATERNALUNIPARENTAL DISOMY OF CHROMOSOME 2 (pUPD2)RELATED WITH HOMOZYGOUS NOVEL MUTATIONS OF THERAB3GAP1 AND UNC80 GENES
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
A report of two infertile patients with isodicentric short arm of chromosome Y
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.51, 2017 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
SMN1 gen delesyonu dışlanmış Spinal Musküler Atrofi ön tanılı çocuklarda etiyolojinin tüm ekzom dizi analizi verilerine dayanarak retrospektif olarak araştırılması.
14. Ulusal Tıbbi Genetik Kongresi“Uluslararası Katılımlı”, Türkiye, 20 - 22 Kasım 2020
SLC25A4 ilişkili bir aksiyel miyopati olgusu: Yeni bir fenotip
3. Nöromusküler Hastalıklar Kongresi, 1-3 Kasım 2019, Çeşme, İzmir, Türkiye, 1 - 03 Kasım 2019
KONJENİTAL JENERALİZE LİPODİSTROFİ TİP 4 - CAVIN1 GENİNDEYENİ MUTASYON
3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 7 - 09 Mart 2019
Dual overlapping phenotype recessively inherited due to paternal uniparental disomy of chromosome 2(pUPD2) in a patient
51st Conference of Theocharis 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.384-385
IS HYPOPIGMENTED SKIN PATCH A NEW SYMPTOM OFROBERTS / SC PHOCOMELIA SYNDROME?
Erciyes Medical Genetics Days 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017, cilt.39, ss.48
Is there any relationship between NRG1 gene duplication and cardiac findings in two prenatal cases with invdupdel(8p) syndrome?
European Human Genetics Conference, Kopenhag, Danimarka, Kopenhag, Danimarka, 27 - 30 Mayıs 2017
Disentrik ve Neosentrik Kromozomal Yeniden Düzenlenimle Sonuçlanan 4 9 Resiprokal Translokasyonlu İnfertil Olgu
XII. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016