| Cantu syndrome is caused by mutations in ABCC9 BWM Van Bon, C Gilissen, DK Grange, RCM Hennekam, H Kayserili, ... The American Journal of Human Genetics 90 (6), 1094-1101, 2012 | 163 | 2012 |
| Epilepsy in patients with familial hemiplegic migraine BRH Bayır, K Tutkavul, M Eser, B Baykan Seizure 88, 87-94, 2021 | 25 | 2021 |
| The expression of HER-2/neu (c-erbB2), survivin and cycline D1 in serous ovarian neoplasms: their correlation with clinicopathological variables G Turan, CS Usta, A Usta, M Kanter, L Tavli, M Karacan, C Celik, M Eser Journal of molecular histology 45, 679-687, 2014 | 22 | 2014 |
| Haploinsufficiency of the DMRT gene cluster in a case with 46, XY ovotesticular disorder of sexual development M Eser, A Ayaz Balkan Medical Journal 35 (3), 272-274, 2018 | 11 | 2018 |
| A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene M Eser, A Ayaz, G Yeşil The Turkish Journal of Pediatrics 59 (5), 601-603, 2017 | 5 | 2017 |
| A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells R Babayeva, C Mongellaz, IS Karakus, M Cansever, SB Eltan, MC Catak, ... Pediatric allergy and immunology: official publication of the European …, 2022 | 3 | 2022 |
| Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients N Yakici, AY Kreins, MC Catak, R Babayeva, B Erman, H Kenney, ... Clinical immunology 255, 109757, 2023 | 2 | 2023 |
| Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome TA Uzunhan, B Ertürk, K Aydın, A Ayaz, U Altunoğlu, MH Yarar, ... Clinical Neurology and Neurosurgery 224, 107560, 2023 | 2 | 2023 |
| Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations F Dursun, HM Genc, A Mine Yılmaz, I Tas, M Eser, C Pehlivanoglu, ... European Journal of Endocrinology 187 (3), K27-K32, 2022 | 2 | 2022 |
| A case with isochromosome 18p and 2q13 deletion including the BUB1 gene A Ayaz, A Topak, S Yalcintepe, T Celik, K Yararbas, M Eser, OO Yuregir Clinical Dysmorphology 27 (3), 101-104, 2018 | 1 | 2018 |
| The TWIST2 mutation causes Setleis syndrome: a rare clinical case report A Ayaz, S Yalcintepe, OO Yuregir, Y Sahin, A Ozer, M Eser, U Celik Clinical Dysmorphology 26 (2), 128-131, 2017 | 1 | 2017 |
| Esansiyel hipertansiyonlu olgularda CHGA geni promotor bölge polimorfizmlerinin araştırılması M Eser, M Şanlıalp, E Tepeli, LŞ Tufan, HA Kaftan, CN Semerci Pamukkale Tıp Dergisi,(1), 23-30, 2015 | 1 | 2015 |
| Contribution of MLPA to routine testing to detect the prognostic chromosomal abnormalities in chronic lymphocytic leukemia. A Ayaz, E Tepeli, I Sari, O Cetin, M Eser, H Dogu, G Bagci Gene Therapy & Molecular Biology 16, 2014 | 1 | 2014 |
| Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort A Türkyılmaz, SG Sağer, E Tekin, K Teralı, H Düzkalır, M Eser, Y Akın neurogenetics, 1-12, 2024 | | 2024 |
| Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2 F Dursun, İ Turan, EÇ Bitkin, E Bayramoğlu, A Çayır, ŞS Erdeve, ... Clinical Endocrinology, 2024 | | 2024 |
| Homozygous Frameshift Mutation In Ceruloplasmin Gene That Causing Neurodegeneration, Dementia With Diabetes In A Turkish Man: A Case Report S Canbek, M Eser, MH Yarar EUROPEAN JOURNAL OF HUMAN GENETICS 32, 213-213, 2024 | | 2024 |
| Corrigendum to" Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients"[Clinical Immunology 255 (2023) 109757] N Yakici, AY Kreins, MC Catak, R Babayeva, B Erman, H Kenney, ... Clinical immunology (Orlando, Fla.) 256, 109799, 2023 | | 2023 |
| Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients”[Clinical Immunology 255 (2023) 109757] N Yakıcı, AY Kreins, MC Çatak, R Babayeva, B Erman, H Kenney, ... Elsevier, 2023 | | 2023 |
| A Case With Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in CREBBP Gene M Eser, A Ayaz, G Yesil EUROPEAN JOURNAL OF HUMAN GENETICS 26, 961-961, 2018 | | 2018 |
| Two cases with Hemoglobin H and overview to prenatal diagnosis and preimplantation genetic diagnosis in Alfa Thalassemia A Ayaz, M Eser Pamukkale Medical Journal 11 (1), 85-88, 2018 | | 2018 |
