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Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation.
Özen S, Gökşen D, Evin F, Işık E, Onay H, Akgün B, Ata A, Atik T, Düzcan F, Özkınay F, Darcan Ş, Çoğulu Ö. Özen S, et al. Among authors: onay h. J Clin Res Pediatr Endocrinol. 2024 Jun 3. doi: 10.4274/jcrpe.galenos.2024.2022-12-8. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 38828893 Free article.
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME, Chaves AVF, Antunes M, Costabel JP, da Fonseca AA, Furtado A, Gomez-Mesa JE, Gutiérrez FJM, Caspi O, Maksimova I, Maski M, Micheletti C, Pena JLB, Ribeiro MG, Rodríguez-González MJ, Tufekcioglu O, Onay H. Silva SME, et al. Among authors: onay h. Cardiovasc Diagn Ther. 2024 Apr 30;14(2):294-303. doi: 10.21037/cdt-23-191. Epub 2024 Mar 18. Cardiovasc Diagn Ther. 2024. PMID: 38716318 Free PMC article.
Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.
Barut D, Kıran Taşcı E, Kunay B, Güven B, Aksoy B, Çağan Appak Y, Karakoyun M, Çetin F, Selimoğlu A, Onay H, Aydoğdu S. Barut D, et al. Among authors: onay h. Scand J Gastroenterol. 2024 Jun;59(6):647-651. doi: 10.1080/00365521.2024.2324961. Epub 2024 Mar 8. Scand J Gastroenterol. 2024. PMID: 38459691
228 results