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Did you mean temeh sg[Author] (15 results)?
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Akinci G, Ozyilmaz B, Ozturk G, Komur M, Onel E, Ardicli D, Gerik-Celebi HB, Ozcelik A, Yilmaz S, Cetin ID, Gunay C, Tuncer GO, Aydin H, Gunes AS, Koken OY, Polat I, Degerliyurt A, Celik T, Cetinoglu YK, Karti O, Sahan S, Karakayali B, Isik E, Elmas M, Sahinoglu B, Bolat H, Karadeniz C, Ceylan AC, Yis U, Turkdogan D, Aksoy A, Temel SG, Topaloglu H. Akinci G, et al. Among authors: temel sg. Neuromuscul Disord. 2025 Aug;53:105423. doi: 10.1016/j.nmd.2025.105423. Epub 2025 Jun 25. Neuromuscul Disord. 2025. PMID: 40674812
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
Aynekin B, Lau T, Kaiyrzhanov R, Papazoglou I, Gulec A, Gumus UGO, Gorokhova S, Tiffany B, Simão Medeiros L, Schwartz IVD, Mutlu MB, Ourani S, Bergman A, Schoch K, Per H, Bingol NN, Temel SG, Durdağı S, Hız S, Bernard G, Tobon FV, Houlden H, Efthymiou S. Aynekin B, et al. Among authors: temel sg. Biochim Biophys Acta Mol Basis Dis. 2026 Apr;1872(4):168184. doi: 10.1016/j.bbadis.2026.168184. Epub 2026 Feb 10. Biochim Biophys Acta Mol Basis Dis. 2026. PMID: 41672381 Free article.
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI; MarmaRare Group; Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. Kim AH, et al. Among authors: temel sg. Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. Print 2024 Oct. Life Sci Alliance. 2024. PMID: 39168639 Free PMC article.
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V, Leblebisatan G, Gürlek Gökçebay D, Güler S, Doğan ME, Tuğ Bozdoğan S, Koca Yozgat A, Özcan A, Pekpak Şahinoğlu E, Tokgöz H, Çil M, Özemri Sağ Ş, Yilmaz E, Şaşmaz Hİ, Evim MS, Akbayram S, Karadoğan M, Mutlu FT, Boğa İ, Yeter Doğan B, Yarali N, Çalişkan Ü, Bişgin A, Temel ŞG, Proven M, Gibson K, Demir BŞ, Saraçoğlu H, Eken A, Karakükçü Ç, Karakükçü M, Güneş AM, Özbek NY, Kilinç Y, Patiroğlu T, Özdemir MA, Roy NBA, Ünal E. Gök V, et al. Among authors: temel sg. Br J Haematol. 2024 Jul;205(1):236-242. doi: 10.1111/bjh.19575. Epub 2024 May 29. Br J Haematol. 2024. PMID: 38811201
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.
Ozcelik F, Dundar MS, Yildirim AB, Henehan G, Vicente O, Sánchez-Alcázar JA, Gokce N, Yildirim DT, Bingol NN, Karanfilska DP, Bertelli M, Pojskic L, Ercan M, Kellermayer M, Sahin IO, Greiner-Tollersrud OK, Tan B, Martin D, Marks R, Prakash S, Yakubi M, Beccari T, Lal R, Temel SG, Fournier I, Ergoren MC, Mechler A, Salzet M, Maffia M, Danalev D, Sun Q, Nei L, Matulis D, Tapaloaga D, Janecke A, Bown J, Cruz KS, Radecka I, Ozturk C, Nalbantoglu OU, Sag SO, Ko K, Arngrimsson R, Belo I, Akalin H, Dundar M. Ozcelik F, et al. Among authors: temel sg. Funct Integr Genomics. 2024 Aug 16;24(4):138. doi: 10.1007/s10142-024-01417-9. Funct Integr Genomics. 2024. PMID: 39147901 Review.
79 results