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Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO. Senturk L, et al. Among authors: toksoy g. Fetal Diagn Ther. 2024 Feb 12. doi: 10.1159/000536324. Online ahead of print. Fetal Diagn Ther. 2024. PMID: 38346409
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
Kardelen AD, Toksoy G, Baş F, Yavaş Abalı Z, Gençay G, Poyrazoğlu Ş, Bundak R, Altunoğlu U, Avcı Ş, Najaflı A, Uyguner O, Karaman B, Başaran S, Darendeliler F. Kardelen AD, et al. Among authors: toksoy g. J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):206-215. doi: 10.4274/jcrpe.0032. Epub 2018 Mar 29. J Clin Res Pediatr Endocrinol. 2018. PMID: 29595516 Free PMC article.
Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey.
Emekli I, Tepgeç F, Samancı B, Toksoy G, Hasanoğulları Kına G, Tüfekçioğlu Z, Başaran S, Bilgiç B, Gürvit IH, Emre M, Uyguner ZO, Hanagasi HA. Emekli I, et al. Among authors: toksoy g. Parkinsonism Relat Disord. 2021 Dec;93:35-39. doi: 10.1016/j.parkreldis.2021.10.024. Epub 2021 Nov 3. Parkinsonism Relat Disord. 2021. PMID: 34781237
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F. Akcan N, et al. Among authors: toksoy g. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):153-171. doi: 10.4274/jcrpe.galenos.2022.2021-9-19. Epub 2022 Feb 9. J Clin Res Pediatr Endocrinol. 2022. PMID: 35135181 Free PMC article.
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A, Toksoy G, Karaca M, Gulec C, Balci MC, Gunes D, Gunes S, Aslanger AD, Unverengil G, Karaman B, Basaran S, Demirkol M, Gokcay GF, Uyguner ZO. Gedikbasi A, et al. Among authors: toksoy g. Front Genet. 2023 Jun 12;14:1191159. doi: 10.3389/fgene.2023.1191159. eCollection 2023. Front Genet. 2023. PMID: 37377599 Free PMC article.
50 results