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Works (16)

ERCC8 related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy

Journal of Surgery and Medicine
2023-10-10 | Journal article
DOI: 10.28982/josam.7380
Contributors: Sinem Kocagil; Ali Rıza Keklikci; Yusuf Aydemir; Oğuz Çilingir; Sabri Aynacı; Ebru Erzurumluoğlu Gökalp; Beyhan Durak Aras; Sevilhan Artan
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Kopya Sayısı Varyantlarının Tanısında Sitogenomik Yaklaşım

2023-04-06 | Book chapter
DOI: 10.53478/TUBA.978-625-8352-48-1.ch04
Contributors: Ebru Erzurumluoğlu Gökalp; Sevilhan Artan
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<i>NDE1</i>-related disorders: A recurrent <i>NDE1</i> pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly

American Journal of Medical Genetics Part A
2022 | Journal article
DOI: 10.1002/AJMG.A.62508
WOSUID: WOS:000698963600001
Contributors: Bas, Hasan; Saylisoy, Suzan; Cilingir, Oguz; Gokalp, Ebru Erzurumluoglu; Kocagil, Sinem; Yarar, Coskun; Aras, Beyhan Durak; Artan, Sevilhan
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Clinical and molecular evaluation of <i>MEFV</i> gene variants in the Turkish population: a study by the National Genetics Consortium

Functional & Integrative Genomics
2022 | Journal article
DOI: 10.1007/S10142-021-00819-3
WOSUID: WOS:000748447100001
Contributors: Dundar, Munis; Fahrioglu, Umut; Yildiz, Saliha Handan; Bakir-Gungor, Burcu; Temel, Sehime Gulsun; Akin, Haluk; Artan, Sevilhan; Cora, Tulin; Sahin, Feride Iffet; Dursun, Ahmet et al.
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A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Neurological Sciences
2021 | Journal article
DOI: 10.1007/S10072-021-05117-1
WOSUID: WOS:000616438700001
Contributors: Samanci, Bedia; Gokalp, Ebru Erzurumluoglu; Bilgic, Basar; Gurvit, Hakan; Artan, Sevilhan; Hanagasi, Hasmet A.
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Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey

International Journal of Ophthalmology
2021 | Journal article
DOI: 10.18240/IJO.2021.06.05
WOSUID: WOS:000657389200005
Contributors: Unlu, Nadir; Gokalp, Ebru Erzurumluoglu; Arslan, Serap; Cilingir, Oguz; Bilgin, Muzaffer; Yildirim, Engin; Gursoy, Huseyin
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Genetic variants associated with atrial fibrillationand long-term recurrence after catheter ablation for atrial fibrillation in Turkish patients

The Anatolian Journal of Cardiology
2021 | Journal article
DOI: 10.14744/ANATOLJCARDIOL.2020.44082
WOSUID: WOS:000614868200012
Contributors: Ulus, Taner; Dural, Muhammet; Mese, Pelin; Yetmis, Furkan; Mert, Kadir Ugur; Gorenek, Bulent; Cilingir, Oguz; Gokalp, Ebru Erzurumluoglu; Arslan, Serap; Artan, Sevilhan et al.
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The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorphisms

Ophthalmic Genetics
2021 | Journal article
DOI: 10.1080/13816810.2021.1961279
WOSUID: WOS:000681169900001
Contributors: Ilguy, Serdar; Cilingir, Oguz; Bilgec, Mustafa Deger; Ozalp, Onur; Gokalp, Ebru Erzurumluoglu; Arslan, Serap; Tekin, Neslihan; Aydemir, Ozge; Erol, Nazmiye; Colak, Ertugrul et al.
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Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?

Molecular Cytogenetics
2021 | Journal article
DOI: 10.1186/S13039-020-00522-1
WOSUID: WOS:000608218000002
Contributors: Aras, Beyhan Durak; Isik, Sevgi; Teke, Hava Uskudar; Aslan, Abdulvahap; Yavasoglu, Filiz; Gulbas, Zafer; Demirkan, Fatih; Ozen, Hulya; Cilingir, Oguz; Inci, Nur Sena et al.
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A pediatric BAL case with double Ph chromosomes and trisomy 5

Cancer Genetics
2021-11 | Journal article
DOI: 10.1016/j.cancergen.2021.06.005
Contributors: Gulcin Gunden; Sevgi Isik; Canan Ozdemir; Oguz Cİlİngİr; Ozcan Bor; Ebru Erzurumluoglu Gokalp; Sinem Kocagil; Sevilhan Artan; Beyhan Durak Aras
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Frequency of frontotemporal dementia-related gene variants in Turkey

Neurobiology of Aging
2021-10 | Journal article
DOI: 10.1016/j.neurobiolaging.2021.05.007
Contributors: Sevilhan Artan; Ebru Erzurumluoglu Gokalp; Bedia Samanci; Demet Ozbabalik Adapinar; Hasan Bas; Fatih Tepgec; Emilia Qomi Ekenel; Oguz Cilingir; Basar Bilgic; Hakan Gurvit et al.
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A new four-way complex translocation variant involving the t(8;5;21;4)(q21;q13;q22;q31) and the relocalization of AML1/ETO fusion gene

Cancer Genetics
2021-08 | Journal article
DOI: 10.1016/j.cancergen.2021.03.001
Contributors: Sevgi Isik; Hava Uskudar Teke; Gulcin Gunden; Ebru Erzurumluoglu Gokalp; Oguz Cilingir; Sevilhan Artan; Beyhan Durak Aras
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A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease

Neurological Sciences
2021-06-15 | Journal article
DOI: 10.1007/s10072-021-05243-w
Contributors: Gamze Guven; Bedia Samanci; Cagri Gulec; Hasmet Hanagasi; Hakan Gurvit; Ebru Erzurumluoglu Gokalp; Fatih Tepgec; Suleyman Guler; Oya Uyguner; Basar Bilgic
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A Turkish patient with novel <i>AHCY</i> variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency

American Journal of Medical Genetics Part A
2020 | Journal article
DOI: 10.1002/AJMG.A.61489
WOSUID: WOS:000508035900001
Contributors: Bas, Hasan; Cilingir, Oguz; Tekin, Neslihan; Saylisoy, Suzan; Aras, Beyhan Durak; Uzay, Elif; Gokalp, Ebru Erzurumluoglu; Artan, Sevilhan
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Clinical use of chromosomal microarray analysis in detection of fetal chromosomal abnormalities

Molecular Cytogenetics
2019 | Journal article
WOSUID: WOS:000474609600168
Contributors: Artan, Sevilhan; Bas, Hasan; Tanir, Mete; Gokalp, Ebru Erzurumluoglu; Velipasaoglu, Melih; Kocagil, Sinem; Aras, Beyhan Durak; Temena, Mehmet Arda; Panal, Gulcin; Ansari, Sara Khadem et al.
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The association between repeat number in C9orf72 and phenotypic variability in Turkish patients with frontotemporal lobar degeneration

Neurobiology of Aging
2019-04 | Journal article
DOI: 10.1016/j.neurobiolaging.2018.12.007
Contributors: Ebru Erzurumluoglu; Oguz Cilingir; Belgin Demet Ozbabalik Adapinar; Basar Bilgic; Sinem Kocagil; Hulya Ozen; Beyhan Durak Aras; Cinar Yenilmez; Sevilhan Artan
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