| Confirmation of the prenatal mosaic trisomy 2 via fetal USG and cytogenetic analyses E Tuğ, D Karcaaltincaba, M Yirmibeş Karaoğuz, H Saat, A Özek The Journal of Maternal-Fetal & Neonatal Medicine 30 (13), 1579-1583, 2017 | 12 | 2017 |
| Hereditary spastic paraplegia: new insights into clinical variability and spasticity–ataxia phenotype, and novel mutations I Sahin, H Saat Acta Neurologica Belgica, 1-7, 2021 | 3 | 2021 |
| Neurofibromatosis Type 1 molecular diagnosis in Turkish patients T Bahsi, H Saat Gazi Med J 31 (3), 406-9, 2020 | 3 | 2020 |
| A patient with partial chromosome 12q duplication and 10q deletion H Saat, Y Soysal, S Kurtgoz, MA Ergun, EF Percin Genet Couns 26 (4), 401-407, 2015 | 3 | 2015 |
| Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations S Hanife, I Sahin, N Duzkale, M Gonul, T Bahsi Medeniyet Medical Journal 37 (2), 126, 2022 | 2 | 2022 |
| Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN and RET mutations in solid tumors I Sahin, H Saat, S Aksoy, O Dizdar, HB Erdem, T Bahsi Molecular and Clinical Oncology 16 (1), 1-7, 2022 | 2 | 2022 |
| Mutation spectrum of hereditary myopathies in Turkish patients and novel variants H Saat, I Sahin Annals of human genetics 85 (5), 178-185, 2021 | 2 | 2021 |
| Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy H Saat, İ Şahin, HB Erdem, S Özgür, ST Tokgöz, T Bahsi Anatolian Journal of Cardiology 26 (6), 460, 2022 | 1 | 2022 |
| Investigation of Submicroscopic Chromosomal Anomalies on Patients with Unexplained Intellectual Disabilities with Molecular Karyotyping H Saat, M Ergün, F Perçin GAZI MEDICAL JOURNAL 33 (4), 2022 | 1 | 2022 |
| Non-Invasive Cancer Genotyping: A Single-Center Experience on the Challenges, Limitations, and Methods I Sahin, H Saat, HB Erdem, T Bahsi GMJ 33, 146-150, 2022 | 1 | 2022 |
| New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability I Sahin, H Saat Genetic Testing and Molecular Biomarkers 26 (1), 17-25, 2022 | 1 | 2022 |
| A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2 I Sahin, H Saat Molecular Biology Reports 48 (6), 5057-5062, 2021 | 1 | 2021 |
| Spectrum of Variants Detected in Cancer Susceptibility Genes Analyzed in Turkish Pancreatic Cancer Patients T Bahsi, H Saat Acta Oncologica Turcica 53 (1), 140-144, 2020 | 1 | 2020 |
| Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population S Hepsen, E Cakal, M Karakose, N Eyerci, H Saat, S Beysel, S Oztekin, ... Gynecological Endocrinology, 2019 | 1 | 2019 |
| Expanding the genotype-phenotype correlations and mutational spectrum in inherited retinal diseases: novel and recurrent mutations I Sahin, HB Erdem, T Bahsi, H Saat Cureus 16 (2), 2024 | | 2024 |
| O-07 Lipodystrophy: A disease to be considered in diabetes clinics BC Helvaci, H Saat, S Hepsen, O Ozcelik, B Ucan, E Cakal JCEM Case Reports 2 (Supplement_1), luad146. 024, 2024 | | 2024 |
| Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers I Sahin, N Kandemir, H Saat Egyptian Journal of Medical Human Genetics 24 (1), 59, 2023 | | 2023 |
| The Impact of JAK2 Mutation on Thrombosis in Philadelphia Chromosome-Negative Chronic Myeloproliferative Neoplasms. A Arslan Kapuci, P Tiglioglu, LT HANCI, H Saat, UY MALKAN UHOD: International Journal of Hematology & Oncology/Uluslararasi Hematoloji …, 2023 | | 2023 |
| Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. MC Bilginer, C Aydın, S Fakı, O Topaloğlu, H Saat, B Çavdarlı, R Ersoy, ... Endocrinology Research & Practice 27 (2), 2023 | | 2023 |
| THE MANAGEMENT OF REPETITIVE SUBACUTE THYROIDITIS IN A MALE PATIENT HAVING HLA-B35: 01 AND B41: 02 ALLELES S Hepşen, H Saat, P Akhanli, E Cakal Acta Endocrinologica (Bucharest) 18 (4), 512, 2022 | | 2022 |
