Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ... Functional & integrative genomics 22 (3), 291-315, 2022 | 16 | 2022 |
PPM1K defects cause mild maple syrup urine disease: The second case in the literature F Ozcelik, S Arslan, BO Caliskan, F Kardas, Y Ozkul, M Dundar American journal of medical genetics. Part A, 2023 | 7 | 2023 |
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution F Ozcelik, MS Dundar, AB Yildirim, G Henehan, O Vicente, ... Functional & Integrative Genomics 24 (4), 1-24, 2024 | 3 | 2024 |
Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing K Uslu, F Ozcelik, G Zararsiz, V Eldem, A Cephe, IO Sahin, RC Yuksel, ... Genes & Immunity, 1-29, 2023 | 2 | 2023 |
A Case of Short Stature Caused by a Mutation in the ACAN Gene E Karatas, M Demir, F Ozcelik, L Kara, E Akyurek, U Berber, N Hatipoglu, ... Molecular Syndromology 14 (2), 123-128, 2023 | 2 | 2023 |
A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A E Sarıkaya, F Özçelik, Ü Gül Şiraz, N Hatipoglu, T Güneş, M Dündar Journal of Pediatric Endocrinology and Metabolism 35 (6), 845-850, 2022 | 1 | 2022 |
A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant F Ozcelik, K Aslan, V Gok, MB Ari, A Ozcan, A Eken, E Ünal, Y Ozkul, ... Pediatric Hematology and Oncology, 1-9, 2023 | | 2023 |
Nadir Hastalıklarda Yeni Nesil Dizilemenin Klinik Kullanım Alanları H Akalın, F Özçelik, M Dündar Yeni Nesil Dizileme ve Klinikteki Uygulamaları, 13-22, 2023 | | 2023 |
Nadir Hastalıklarda Biyoteknolojik Tedaviler F Özçelik, A Yıldırım, B Aynekin, Z Alzaidi, M Dündar Nadir Hastalıklar 1, 78-90, 2021 | | 2021 |