| Gain‐of‐Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies S Eren Akarcan, E Ulusoy Severcan, N Edeer Karaca, E Isik, G Aksu, ... Case reports in immunology 2017 (1), 2846928, 2017 | 45 | 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 | 26 | 2021 |
| Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping E Isik, A Aykut, T Atik, O Cogulu, F Ozkinay European journal of medical genetics 62 (9), 103544, 2019 | 24 | 2019 |
| Factor 8 gene mutation spectrum of 270 patients with hemophilia A: identification of 36 novel mutations T Atik, E Işık, H Onay, B Akgün, M Shamsali, K Kavaklo, M Evim, G Tüysüz, ... Turkish Journal of Hematology 37 (3), 145, 2020 | 19 | 2020 |
| Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations F Ozkinay, DA Emecen, M Kose, E Isik, AE Bozaci, E Canda, B Tuysuz, ... Molecular Genetics and Metabolism Reports 27, 100732, 2021 | 17 | 2021 |
| The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum M Kose, E Isik, A Aykut, A Durmaz, E Kose, M Ersoy, G Diniz, O Adebali, ... Journal of Pediatric Endocrinology and Metabolism 34 (4), 417-430, 2021 | 14 | 2021 |
| WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation HM Serin, E Simsek, E Isik, S Gokben Neurological Sciences 39, 1977-1980, 2018 | 14 | 2018 |
| A rare cause of syndromic short stature: 3M syndrome in three families E Isik, D Arican, T Atik, JE Ooi, S Darcan, S Ozen, PO Simsek Kiper, ... American Journal of Medical Genetics Part A 185 (2), 461-468, 2021 | 13 | 2021 |
| A further family of Stromme syndrome carrying CENPF mutation F Ozkinay, T Atik, E Isik, Z Gormez, M Sagiroglu, OA Sahin, N Corduk, ... American journal of medical genetics Part A 173 (6), 1668-1672, 2017 | 13 | 2017 |
| Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations E Isik, H Onay, T Atik, B Akgun, O Cogulu, F Ozkinay Clinical neurology and neurosurgery 172, 20-23, 2018 | 12 | 2018 |
| Dobutamine stress radionuclide ventriculography for the detection of coronary artery disease B Günalp, C Uyan, B Dokumaci, M Özgüven, E VARDARELI, E Öztürk, ... Nuclear medicine communications 14 (6), 471-478, 1993 | 12 | 1993 |
| Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants AE Solmaz, E Isik, T Atik, F Ozkinay, H Onay Clinical Neurology and Neurosurgery 208, 106884, 2021 | 11 | 2021 |
| The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly E Isik, T Atik, F Ozkinay Clinical Dysmorphology 28 (1), 38-40, 2019 | 10 | 2019 |
| Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases E Isik, H Onay, T Atik, E Canda, O Cogulu, M Coker, F Ozkinay European Journal of Medical Genetics 62 (10), 103725, 2019 | 9 | 2019 |
| The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies E Isik, S Yilmaz, T Atik, G Aktan, H Onay, S Gokben, F Ozkinay Neurological Sciences 41, 3729-3739, 2020 | 7 | 2020 |
| Clinical and molecular aspects of PTEN mutations in 10 pediatric patients E Isik, OS Simsir, AE Solmaz, H Onay, T Atik, A Aykut, A Durmaz, ... Annals of Human Genetics 84 (4), 324-330, 2020 | 6 | 2020 |
| Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder NB Ozbaran, SC Ozyasar, N Dogan, HY Kafali, E Isik, A Satar, S Kose, ... Clinical Child Psychology and Psychiatry 27 (4), 991-1005, 2022 | 5 | 2022 |
| Analysis of ITO surface modified with aromatic-based self-assembled molecules AK Havare Bulletin of Materials Science 43 (1), 266, 2020 | 5 | 2020 |
| Çocuk cinsel istismarını önlemeye yönelik geliştirilen okul temelli programlar ve etkililikleri H Demircioğlu, E Işık Hacettepe Üniversitesi Sosyal Bilimler Dergisi 1 (1), 32-51, 2019 | 5 | 2019 |
| Intracranial bleeding in a female hemophilia patient: molecular analysis of the factor 8 gene and determination of a novel mutation BT Güneş, ZÖ Siviş, E Ataseven, B Malbora, M Türker, FB Belen, B Atabay, ... Turkish Journal of Hematology 35 (3), 202, 2018 | 5 | 2018 |
