| The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex … G Öcal, M Berberoğlu, Z Şıklar, HI Ruhi, A Tükün, E Çamtosun, ŞS Erdeve, ... European journal of pediatrics 171, 1497-1502, 2012 | 42 | 2012 |
| Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey F Sadeghi, N Yurur-Kutlay, M Berberoglu, E Cetinkaya, Z Aycan, C Kara, ... Journal of Pediatric Endocrinology and Metabolism 21 (8), 781-788, 2008 | 39 | 2008 |
| Association between N363S and BclI polymorphisms of the glucocorticoid receptor gene (NR3C1) and glucocorticoid side effects during childhood acute lymphoblastic leukemia treatment MK Cihan, HG Karabulut, NY Kutlay, HI Ruhi, A Tükün, L Olcay Turkish Journal of Hematology 34 (2), 151, 2017 | 38 | 2017 |
| Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case–control study S Vural, M Gündoğdu, E Gökpınar İli, CD Durmaz, A Vural, ... British Journal of Dermatology 180 (6), 1459-1467, 2019 | 33 | 2019 |
| The genotoxic effects of hepatitis B virus to host DNA P Özkal, H Ilgın-Ruhi, M Akdoğan, AH Elhan, S Kaçar, N Şaşmaz Mutagenesis 20 (2), 147-150, 2005 | 32 | 2005 |
| Clinical review of 95 patients with 46, XX disorders of sex development based on the new Chicago classification G Öcal, M Berberoğlu, Z Sıklar, Z Aycan, B Hacıhamdioglu, ŞS Erdeve, ... Journal of pediatric and adolescent gynecology 28 (1), 6-11, 2015 | 27 | 2015 |
| Prenatal tanı K YARARBAŞ, H ILGIN-RUHİ Turkiye Klinikleri Journal of Medical Sciences 26 (6), 666-674, 2006 | 25 | 2006 |
| The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey H Ilgın-Ruhi, N Yürür-Kutlay, A Tükün, I Bökesoy European journal of medical genetics 48 (1), 13-19, 2005 | 18 | 2005 |
| Investigation of androgen receptor gene mutations in a series of 21 patients with 46, XY disorders of sex development V Topcu, H Ilgin-Ruhi, Z Siklar, HG Karabulut, M Berberoglu, ... Journal of Pediatric Endocrinology and Metabolism 28 (11-12), 1257-1263, 2015 | 17 | 2015 |
| Skin-dominant phenotype in a patient with H syndrome: identification of a novel mutation in the SLC29A3 gene S Vural, P Ertop, CD Durmaz, H Şanlı, A Okçu Heper, N Kundakçı, ... Cytogenetic and Genome Research 151 (4), 186-190, 2017 | 14 | 2017 |
| A Down syndrome case with a karyotype of 46, XY, rec (21) dup (21q) inv (21)(p11q22) derived from paternal pericentric inversion of chromosome 21. H Ilgin Ruhi, A Tükün, H Karabulut, P Bayazit, I Bökesoy Clinical Genetics 59 (5), 2001 | 12 | 2001 |
| 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 | 10 | 2022 |
| Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report O Gürbüz-Köz, T Atalay, C Köz, H Ilgin-Ruhi, A Yarangümeli, G Kural The Turkish journal of pediatrics 49 (4), 444-447, 2007 | 10 | 2007 |
| Investigation of SHOX gene mutations in Turkish patients with idiopathic short stature K Delil, HG Karabulut, B Hacıhamdioğlu, Z Şıklar, M Berberoğlu, G Öçal, ... Journal of clinical research in pediatric endocrinology 8 (2), 144, 2016 | 9 | 2016 |
| Bilateral choanal atresia in an adult woman with pycnodysostosis CD Durmaz, V Taş, P Kocaay, ÖS Fitöz, H Onay, S Beton, F Özkınay, ... Congenital Anomalies 57 (3), 91-92, 2017 | 8 | 2017 |
| A novel TWIST1 gene mutation in a patient with Saethre–Chotzen syndrome S Altiner, HG Karabulut, K Yararbas, A Tükün, C Collet, P Kocaay, ... Clinical dysmorphology 26 (3), 175-178, 2017 | 7 | 2017 |
| Meme kanserinde farmakogenetik HI Ruhi Turkiye Klinikleri Journal of Medical Sciences 30 (3), 16-21, 2010 | 7 | 2010 |
| A novel Fryns" Anophthalmia-plus" syndrome associated with primary hypothyroidism. I Akalin, DA Senses, H Ilgin-Ruhi, E Misirlioğlu, M Yalciner, E Cetinkaya, ... Genetic Counseling (Geneva, Switzerland) 16 (2), 145-148, 2005 | 7 | 2005 |
| Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia A Kiraz, O Sezer, A Alemdar, S Canbek, N Duman, A Bisgin, T Cora, ... Journal of medical virology 95 (2), e28457, 2023 | 6 | 2023 |
| Molecular Spectrum of PIK3CA Gene Mutations in Patients with Nonsmall-Cell Lung Cancer in Turkey S Ekinci, H Ilgin-Ruhi, M Dogan, S Gursoy, S Dizbay-Sak, A Demirkazik, ... Genetic Testing and Molecular Biomarkers 19 (7), 353-358, 2015 | 5 | 2015 |
Ajlan TukunDüzen Lab Group Dept Medical GeneticsVerifierad e-postadress på medicine.ankara.edu.tr
