Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
Akgun‐Dogan, Ozlem, Ağaoğlu, Nihat B., K. Demirkol, Yasemin, Doğanay, Levent, Ergül, Yakup, Karacan, Mehmet
Published in Journal of cardiovascular electrophysiology (01.02.2022)
Published in Journal of cardiovascular electrophysiology (01.02.2022)
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Journal Article
The same mutation in a family with adenosine deaminase 2 deficiency
Sozeri, Betul, Ercan, Gozde, Dogan, Ozlem Akgun, Yıldız, Jale, Demir, Ferhat, Doğanay, Levent
Published in Rheumatology international (01.01.2021)
Published in Rheumatology international (01.01.2021)
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Journal Article
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels
Agaoglu, Nihat Bugra, Unal, Busra, Akgun Dogan, Ozlem, Kanev, Martin Orlinov, Zolfagharian, Payam, Ozemri Sag, Sebnem, Temel, Sehime Gulsun, Doganay, Levent
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Journal Article
ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes
Akgun‐Dogan, Ozlem, Simsek‐Kiper, Pelin O., Taskiran, Ekim, Lissewski, Christina, Brinkmann, Julia, Schanze, Denny, Göçmen, Rahşan, Cagdas, Deniz, Bilginer, Yelda, Utine, Gülen E., Zenker, Martin, Ozen, Seza, Tezcan, İlhan, Alikasifoglu, Mehmet, Boduroğlu, Koray
Published in American journal of medical genetics. Part A (01.12.2019)
Published in American journal of medical genetics. Part A (01.12.2019)
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Journal Article
Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results
Hatirnaz Ng, Ozden, Sahin, Ilayda, Erbilgin, Yucel, Ozdemir, Ozkan, Yucesan, Emrah, Erturk, Nazli, Yemenici, Merve, Akgun Dogan, Ozlem, Ugur Iseri, Sibel Aylin, Satman, Ilhan, Alanay, Yasemin, Ozbek, Ugur
Published in Frontiers in public health (04.01.2023)
Published in Frontiers in public health (04.01.2023)
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Journal Article
Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis
Simsek‐Kiper, Pelin O., Taskiran, Ekim Z., Kosukcu, Can, Urel‐Demir, Gizem, Akgun‐Dogan, Ozlem, Yilmaz, Guney, Utine, Gulen E., Nishimura, Gen, Boduroglu, Koray, Alikasifoglu, Mehmet
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Journal Article
The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation
Gumruk, Fatma, Orgul, Gokcen, Akgun Dogan, Ozlem, Tanacan, Atakan, Karaagaoglu, Ergun, Beksac, Mehmet Sinan
Published in Electronic journal of general medicine (01.01.2018)
Published in Electronic journal of general medicine (01.01.2018)
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Journal Article
Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center
Akgün Doğan, Özlem, Ürel Demir, Gizem, Arslan, Umut, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Published in American journal of perinatology (01.04.2018)
Published in American journal of perinatology (01.04.2018)
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Journal Article
COVID-19 PCR test performance on samples stored at ambient temperature
Agaoglu, Nihat Bugra, Yildiz, Jale, Akgun Dogan, Ozlem, Kose, Betsi, Alkurt, Gizem, Kendir Demirkol, Yasemin, Irvem, Arzu, Doganay, Levent, Dinler Doganay, Gizem
Published in Journal of virological methods (01.03.2022)
Published in Journal of virological methods (01.03.2022)
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Journal Article
Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene
Kırmızıbekmez, Heves, Kendir Demirkol, Yasemin, Akgün Doğan, Özlem, Seymen, Gülcan, İnan Balcı, Elif, Atla, Pınar, Dursun, Fatma
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
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Journal Article
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
Yildirim Simsir, Ilgin, Tuysuz, Beyhan, Ozbek, Mehmet Nuri, Tanrikulu, Seher, Celik Guler, Merve, Karhan, Asuman Nur, Denkboy Ongen, Yasemin, Gunes, Nilay, Soyaltin, Utku Erdem, Altay, Canan, Nur, Banu, Ozalkak, Servan, Akgun Dogan, Ozlem, Dursun, Fatma, Pekkolay, Zafer, Eren, Mehmet Ali, Usta, Yusuf, Ozisik, Secil, Ozgen Saydam, Basak, Adiyaman, Suleyman Cem, Unal, Mehmet Cagri, Gungor Semiz, Gokcen, Turan, Ihsan, Eren, Erdal, Kayserili, Hulya, Jeru, Isabelle, Vigouroux, Corinne, Atik, Tahir, Onay, Huseyin, Ozen, Samim, Arioglu Oral, Elif, Akinci, Baris
Published in Diabetes, obesity & metabolism (01.07.2023)
Published in Diabetes, obesity & metabolism (01.07.2023)
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Journal Article
Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer
Agaoglu, Nihat Bugra, Unal, Busra, Akgun Dogan, Ozlem, Zolfagharian, Payam, Sharifli, Pari, Karakurt, Aylin, Can Senay, Burak, Kizilboga, Tugba, Yildiz, Jale, Dinler Doganay, Gizem, Doganay, Levent
Published in Expert review of molecular diagnostics (01.02.2022)
Published in Expert review of molecular diagnostics (01.02.2022)
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Journal Article
A rare disease: ZAP70 deficiency
Erdogan, Seher, Cakmak, Selen Ceren, Gurkan, Atay, Akkus, Canan Hasbal, Karakayali, Burcu, Dogan, Ozlem Akgun, Sozeri, Betul
Published in Northern Clinics of Istanbul (01.01.2024)
Published in Northern Clinics of Istanbul (01.01.2024)
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Journal Article
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4
Akinci, Gulcin, Alyaarubi, Saif, Patni, Nivedita, Alhashmi, Nadia, Al‐Shidhani, Azza, Prodam, Flavia, Gagne, Nancy, Babalola, Funmbi, Al Senani, Aisha, Muniraj, Kavitha, Elsayed, Solaf M., Beghini, Marianna, Saydam, Basak Ozgen, Allawati, Moosa, Vaishnav, Madhumati S., Can, Ender, Simsir, Ilgin Y., Sorkina, Ekaterina, Dursun, Fatma, Kamrath, Clemens, Cavdar, Umit, Chakraborty, Partha P., Dogan, Ozlem Akgun, Al Hosin, Aliya, Al Maimani, Ashwaq, Comunoglu, Nil, Hamed, Ahmed, Huseinbegovic, Tea, Scherer, Thomas, Curtis, Jacqueline, Brown, Rebecca J., Topaloglu, Haluk, Simha, Vinaya, Wabitsch, Martin, Tuysuz, Beyhan, Oral, Elif A., Akinci, Baris, Garg, Abhimanyu
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
Akgun-Dogan, Ozlem, Tuc Bengur, Ecenur, Ay, Beril, Ozkose, Gulsah Sebnem, Kar, Emre, Bengur, Fuat Baris, Bulut, Aybike S, Yigit, Ayca, Aydin, Eylul, Esen, Fatma Nisa, Ozdemir, Ozkan, Yesilyurt, Ahmet, Alanay, Yasemin
Published in Frontiers in genetics (2024)
Published in Frontiers in genetics (2024)
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