| Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability EZ Taşkıran, B Karaosmanoğlu, C Koşukcu, G Ürel‐Demir, ... Journal of Intellectual Disability Research 65 (6), 577-588, 2021 | 19 | 2021 |
| Peters Plus syndrome: a recognizable clinical entity G ÜREL DEMİR, NAZ Lafci, P Dogan, P ŞİMŞEK KİPER, G ÜTİNE Turkish Journal of Pediatrics 62 (1), 2020 | 12 | 2020 |
| Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype G Ürel-Demir, PÖ Şimşek-Kiper, İ Öncel, GE Utine, G Haliloğlu, ... European Journal of Paediatric Neurology 32, 46-55, 2021 | 10 | 2021 |
| Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum ÖA Doğan, GÜ Demir, C Kosukcu, EZ Taskiran, PÖ Simsek-Kiper, ... European journal of medical genetics 62 (6), 103535, 2019 | 9 | 2019 |
| Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification G Ürel-Demir, PO Simsek-Kiper, Ö Akgün-Doğan, R Göçmen, Z Wang, ... Journal of Human Genetics 63 (9), 1003-1007, 2018 | 9 | 2018 |
| Two siblings with Kaufman oculocerebrofacial syndrome resembling oculoauriculovertebral spectrum G Ürel-Demir, B Aydın, B Karaosmanoğlu, Ö Akgün-Doğan, EZ Taşkıran, ... Molecular Syndromology 12 (2), 106-111, 2021 | 8 | 2021 |
| Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry GE Utine, PÖ Şimşek-Kiper, Ö Akgün-Doğan, G Ürel-Demir, Y Alanay, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 221, 76-80, 2018 | 8 | 2018 |
| Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience PO Simsek-Kiper, G Urel-Demir, EZ Taskiran, UE Arslan, B Nur, E Mihci, ... Journal of Human Genetics 66 (6), 585-596, 2021 | 6 | 2021 |
| Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development G Ürel Demir, ÖA Doğan, PÖ Şimşek Kiper, GE Utine, K Boduroğlu, ... Fetal and Pediatric Pathology 36 (6), 445-451, 2017 | 6 | 2017 |
| Genetic disorders with symptoms mimicking rheumatologic diseases: a single-center retrospective study UK Akca, POS Kiper, GU Demir, E Sag, E Atalay, GE Utine, M Alikasifoglu, ... European Journal of Medical Genetics 64 (4), 104185, 2021 | 5 | 2021 |
| Ultrasonographic screening and the determination of risk factors involved in developmental dysplasia of the hip GÜ Demir, E Sarı, S Karademir, Ç Üner, YT Yıldız, U Onay, Ş Bekmez The Journal of Pediatric Research, 2020 | 5 | 2020 |
| Investigation of genetic causes in a developmental disorder: oculoauriculovertebral Spectrum N Güleray, C Koşukcu, S Oğuz, G Ürel Demir, EZ Taşkıran, PÖŞ Kiper, ... The Cleft Palate-Craniofacial Journal 59 (9), 1114-1124, 2022 | 4 | 2022 |
| Prenatal and postnatal follow-up in trisomies 13 and 18: a 20-year experience in a tertiary center ÖA Doğan, GÜ Demir, U Arslan, PÖ Şimşek-Kiper, GE Utine, ... American Journal of Perinatology 35 (05), 427-433, 2018 | 4 | 2018 |
| Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis PO Simsek‐Kiper, EZ Taskiran, C Kosukcu, G Urel‐Demir, ... American Journal of Medical Genetics Part A 176 (9), 2009-2016, 2018 | 3 | 2018 |
| Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t (17; 20) G Ürel-Demir, Ö Akgün-Doğan, S Oğuz, N Güleray-Lafcı, ... Molecular Syndromology 11 (1), 38-42, 2020 | 2 | 2020 |
| Three new cases of Crisponi/cold induced sweating syndrome (CS/CISS1) in Turkish families A Kolkiran, G Ürel-Demir, PÖ Şimşek-Kiper, GE Utine European Journal of Medical Genetics 64 (7), 104229, 2021 | 1 | 2021 |
| Stuve-Wiedemann syndrome: a rare clinical entity G ÜREL DEMİR, P Ozlem, S Kiper, G ÜTİNE Gazi medical journal 31 (4), 2020 | 1 | 2020 |
| Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type N Gupta, ARE Correa, M Jana, M Kabra Journal of Pediatric Genetics 8 (03), 153-156, 2019 | 1 | 2019 |
| Ophthalmo-acromelic syndrome in an infant G Ürel-Demir, EZ Taşkıran, Ö Akgün-Doğan, PÖ Şimşek-Kiper, GE Utine European Journal of Medical Genetics 62 (7), 103664, 2019 | 1 | 2019 |
| Akondroplazide baba yaşı: İleri baba yaşı kaçtır? S Atar, GÜ Demir, PÖŞ Kiper, GE Utine, OK Boduroğlu Cocuk Sagligi ve Hastaliklari Dergisi 62, 2019 | 1 | 2019 |
