Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey B Akinci, H Onay, T Demir, S Ozen, H Kayserili, G Akinci, B Nur, B Tuysuz, ... The Journal of Clinical Endocrinology & Metabolism 101 (7), 2759-2767, 2016 | 89 | 2016 |
Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss T Atik, H Onay, A Aykut, G Bademci, T Kirazli, M Tekin, F Ozkinay PloS one 10 (11), e0142154, 2015 | 81 | 2015 |
Whole-exome sequencing and its impact in hereditary hearing loss T Atik, G Bademci, O Diaz-Horta, SH Blanton, M Tekin Genetics research 97, e4, 2015 | 73 | 2015 |
Diffuse hypomyelination is not obligate for POLR3-related disorders R La Piana, FK Cayami, LT Tran, K Guerrero, R van Spaendonk, K Õunap, ... Neurology 86 (17), 1622-1626, 2016 | 70 | 2016 |
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy B Akinci, H Onay, T Demir, Ş Savas-Erdeve, R Gen, IY Simsir, FE Keskin, ... Metabolism 72, 109-119, 2017 | 64 | 2017 |
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome T Atik, A Koparir, G Bademci, J Foster, U Altunoglu, GY Mutlu, S Bowdin, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 56 | 2015 |
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes AE Solmaz, H Onay, T Atik, A Aykut, MC Gunes, OO Yuregir, VN Bas, ... European journal of medical genetics 58 (12), 689-694, 2015 | 54 | 2015 |
Rapid molecular genetic diagnosis with next-generation sequencing in 46, XY disorders of sex development cases: efficiency and cost assessment S Özen, H Onay, T Atik, AE Solmaz, F Özkınay, D Gökşen, Ş Darcan Hormone research in paediatrics 87 (2), 81-87, 2017 | 48 | 2017 |
Effect of zinc sulfate on common cold in children: randomized, double blind study Z Kurugöl, N Bayram, T Atik Pediatrics International 49 (6), 842-847, 2007 | 47 | 2007 |
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy S Gokben, H Onay, S Yilmaz, T Atik, G Serdaroglu, H Tekin, F Ozkinay Acta Neurologica Belgica 117, 131-138, 2017 | 45 | 2017 |
Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss G Bademci, FB Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, ... Scientific reports 6 (1), 31622, 2016 | 45 | 2016 |
Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities B Akinci, FD Koseoglu, H Onay, S Yavuz, C Altay, IY Simsir, S Ozisik, ... Metabolism 64 (9), 1086-1095, 2015 | 36 | 2015 |
The relation of arterial stiffness with intrauterine growth retardation E Levent, T Atik, Ş Darcan, Z Ülger, D Gökşen, AR Özyürek Pediatrics International 51 (6), 807-811, 2009 | 36 | 2009 |
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C F Pelletier, S Perrier, FK Cayami, A Mirchi, S Saikali, LT Tran, N Ulrick, ... The Journal of Clinical Endocrinology & Metabolism 106 (2), e660-e674, 2021 | 34 | 2021 |
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4 G Akinci, H Topaloglu, B Akinci, H Onay, C Karadeniz, Y Ergul, T Demir, ... European journal of medical genetics 59 (6-7), 320-324, 2016 | 30 | 2016 |
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics A Aykut, S Özen, D Gökşen, A Ata, H Onay, T Atik, Ş Darcan, F Özkinay European journal of pediatrics 179, 1445-1452, 2020 | 25 | 2020 |
Evaluation of the effects of miRNAs in familial Mediterranean fever HO Hortu, E Karaca, B Sozeri, N Gulez, B Makay, C Gunduz, T Atik, ... Clinical rheumatology 38, 635-643, 2019 | 25 | 2019 |
Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations A Aykut, E Karaca, H Onay, D Gökşen, Ş Çetinkalp, E Eren, B Ersoy, ... Gene 641, 186-189, 2018 | 25 | 2018 |
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy C Altay, M Seçil, T Demir, T Atik, G Akıncı, NÖ Kutbay, EK Temeloğlu, ... Diagnostic and Interventional Radiology 23 (6), 428, 2017 | 25 | 2017 |
A new cause of obesity syndrome associated with a mutation in the carboxypeptidase gene detected in three siblings with obesity, intellectual disability and hypogonadotropic … A Durmaz, A Aykut, T Atik, S Özen, DA Emecen, A Ata, E Işık, D Gökşen, ... Journal of Clinical Research in Pediatric Endocrinology 13 (1), 52, 2021 | 24 | 2021 |