| Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients R Yilmaz, K Szakszon, A Altmann, U Altunoglu, L Senturk, M McGuire, ... American Journal of Medical Genetics Part A 176 (1), 187-193, 2018 | 20 | 2018 |
| Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B A Palencia‐Campos, ML Martínez‐Fernández, U Altunoglu, ... Human Mutation 41 (1), 265-276, 2020 | 10 | 2020 |
| Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis T Sarac Sivrikoz, T Kalayci, L Senturk, V Karaman, IH Kalelioglu, R Has, ... Prenatal Diagnosis 42 (12), 1503-1510, 2022 | 2 | 2022 |
| Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey E Yilmaz Gulec, GT Turgut, A Gezdirici, V Karaman, FN Ozturk, S Avci, ... Clinical genetics 102 (3), 201-217, 2022 | 1 | 2022 |
| Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta L Senturk, C Gulec, T Sarac Sivrikoz, H Kayserili, IH Kalelioglu, S Avci, ... Fetal Diagnosis and Therapy, 1-1, 2024 | | 2024 |
| JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE AD Aslanger, BT Yıldırım, T Kalaycı, L Şentürk, Ş Avcı, U Altunoğlu, ... Journal of Istanbul Faculty of Medicine 86 (4), 327-335, 2023 | | 2023 |
| Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B V Lopez-Gonzalez, J Rosell, MS Aglan, S Temtamy, GA Otaify, ... | | 2020 |
| Pre-perinatal dönemde ayırıcı tanıda osteogenezis imperfekta L Şentürk | | |
| New Fetal Case of Blomstrand Chondrodysplasia and Review of the Literature T Kalaycı, U Altunoğlu, L Şentürk, Z Uyguner, H Kayserili Karabay | | |
| Altı Olguda Stuve-Wiedmann Sendromunun Klinik ve Moleküler Karekterizasyonu L Şentürk, Ç Güleç, H Kayserili Karabay, T Kalaycı, Z Uyguner, ... | | |
