| Mutations in CYP24A1 and idiopathic infantile hypercalcemia KP Schlingmann, M Kaufmann, S Weber, A Irwin, C Goos, U John, ... New England Journal of Medicine 365 (5), 410-421, 2011 | 787 | 2011 |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 318 | 2015 |
| Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatasez-scores in different types of rickets S Turan, B Topcu, İ Gökçe, T Güran, Z Atay, A Omar, T Akçay, A Bereket Journal of clinical research in pediatric endocrinology 3 (1), 7, 2011 | 222 | 2011 |
| Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome R Prasad, I Hadjidemetriou, A Maharaj, E Meimaridou, F Buonocore, ... The Journal of clinical investigation 127 (3), 942-953, 2017 | 188 | 2017 |
| Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort T Guran, F Buonocore, N Saka, MN Ozbek, Z Aycan, A Bereket, F Bas, ... The Journal of Clinical Endocrinology & Metabolism 101 (1), 284-292, 2016 | 182 | 2016 |
| Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor T Guran, G Tolhurst, A Bereket, N Rocha, K Porter, S Turan, FM Gribble, ... The Journal of Clinical Endocrinology & Metabolism 94 (10), 3633-3639, 2009 | 175 | 2009 |
| Changes over time in sex assignment for disorders of sex development Z Kolesinska, SF Ahmed, M Niedziela, J Bryce, M Molinska-Glura, ... Pediatrics 134 (3), e710-e715, 2014 | 139 | 2014 |
| Novel associations in disorders of sex development: findings from the I-DSD Registry K Cox, J Bryce, J Jiang, M Rodie, R Sinnott, M Alkhawari, W Arlt, L Audi, ... The Journal of Clinical Endocrinology & Metabolism 99 (2), E348-E355, 2014 | 124 | 2014 |
| Significance of acanthosis nigricans in childhood obesity T Guran, S Turan, T Akcay, A Bereket Journal of paediatrics and child health 44 (6), 338-341, 2008 | 121 | 2008 |
| Puberty and influencing factors in schoolgirls living in Istanbul: end of the secular trend? Z Atay, S Turan, T Guran, A Furman, A Bereket Pediatrics 128 (1), e40-e45, 2011 | 113 | 2011 |
| The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene A Lucas-Herald, S Bertelloni, A Juul, J Bryce, J Jiang, M Rodie, R Sinnott, ... The Journal of Clinical Endocrinology & Metabolism 101 (11), 3959-3967, 2016 | 108 | 2016 |
| Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 C Bonnard, AC Strobl, M Shboul, H Lee, B Merriman, SF Nelson, ... Nature genetics 44 (6), 709-713, 2012 | 88 | 2012 |
| Hypercalciuria and recurrent urinary tract infections: incidence and symptoms in children over 5 years of age NK Biyikli, H Alpay, T Guran Pediatric nephrology 20, 1435-1438, 2005 | 86 | 2005 |
| Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome E Dikoglu, A Alfaiz, M Gorna, D Bertola, JH Chae, TJ Cho, M Derbent, ... American journal of medical genetics Part A 167 (7), 1501-1509, 2015 | 81 | 2015 |
| Primary adrenal insufficiency in children: Diagnosis and management T Kirkgoz, T Guran Best Practice & Research Clinical Endocrinology & Metabolism 32 (4), 397-424, 2018 | 80 | 2018 |
| The prevalence and risk factors of premature thelarche and pubarche in 4‐to 8‐year‐old girls Z Atay, S Turan, T Guran, A Furman, A Bereket Acta Paediatrica 101 (2), e71-e75, 2012 | 78 | 2012 |
| Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia S Turan, C Aydin, A Bereket, T Akcay, T Güran, BA Yaralioglu, M Bastepe, ... Bone 46 (2), 402-409, 2010 | 75 | 2010 |
| Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ... The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019 | 70 | 2019 |
| AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity T Akcay, M Fernandez‐Cancio, S Turan, T Güran, L Audi, A Bereket Andrology 2 (4), 572-578, 2014 | 64 | 2014 |
| Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis P Kühnen, S Turan, S Fröhler, T Güran, S Abali, H Biebermann, A Bereket, ... The Journal of Clinical Endocrinology & Metabolism 99 (1), E169-E176, 2014 | 63 | 2014 |
