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Page 1
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: sag so. 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.
From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.
Turkgenc B, Baydar CL, Deniz I, Akcay A, Ergoren MC, Sag SO, Yakicier MC, Temel SG. Turkgenc B, et al. Among authors: sag so. Appl Immunohistochem Mol Morphol. 2023 Nov-Dec 01;31(10):690-696. doi: 10.1097/PAI.0000000000001163. Epub 2023 Oct 5. Appl Immunohistochem Mol Morphol. 2023. PMID: 37796154
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.
Duman N, Tuncel G, Bisgin A, Bozdogan ST, Sag SO, Gul S, Kiraz A, Balta B, Erdogan M, Uyanik B, Canbek S, Ata P, Geckinli BB, Arslan Ates E, Alavanda C, Yesim Ozdemir S, Sezer O, Ozgon GO, Gurkan H, Guler K, Boga I, Kaya N, Alemdar A, Sayan M, Dundar M, Ergoren MC, Temel SG. Duman N, et al. Among authors: sag so. J Med Virol. 2022 Nov;94(11):5225-5243. doi: 10.1002/jmv.27976. Epub 2022 Jul 22. J Med Virol. 2022. PMID: 35811452 Free PMC article.
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Kubar A, Temel SG, Beken S, Onder G, Hatirnaz O, Korkmaz A, Alanay Y, Ozbek U, Sag SO, Ergoren MC, Kubar E, Sonmezalp CZ, Doğan O. Kubar A, et al. Among authors: sag so. Mol Genet Genomic Med. 2023 Dec;11(12):e2270. doi: 10.1002/mgg3.2270. Epub 2023 Aug 23. Mol Genet Genomic Med. 2023. PMID: 37614112 Free PMC article.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M, Fahrioglu U, Yildiz SH, Bakir-Gungor B, Temel SG, Akin H, Artan S, Cora T, Sahin FI, Dursun A, Sezer O, Gurkan H, Erdogan M, Gunduz CNS, Bisgin A, Ozdemir O, Ulgenalp A, Percin EF, Yildirim ME, Tekes S, Bagis H, Yuce H, Duman N, Bozkurt G, Yararbas K, Yildirim MS, Arman A, Mihci E, Eraslan S, Altintas ZM, Aymelek HS, Ruhi HI, Tatar A, Ergoren MC, Cetin GO, Altunoglu U, Caglayan AO, Yuksel B, Ozkul Y, Saatci C, Kenanoglu S, Karasu N, Dundar B, Ozcelik F, Demir M, Siniksaran BS, Kulak H, Kiranatlioglu K, Baysal K, Kazimli U, Akalin H, Dundar A, Boz M, Bayram A, Subasioglu A, Colak FK, Karaduman N, Gunes MC, Kandemir N, Aynekin B, Emekli R, Sahin IO, Ozdemir SY, Onal MG, Senel AS, Poyrazoglu MH, Kisaarslan ANP, Gursoy S, Baskol M, Calis M, Demir H, Zararsiz GE, Erdogan MO, Elmas M, Solak M, Ulu MS, Thahir A, Aydin Z, Atasever U, Sag SO, Aliyeva L, Alemdar A, Dogan B, Erguzeloglu CO, Kaya N, Ozkinay F, Cogulu O, Durmaz A, Onay H, Karaca E, Durmaz B, Aykut A, Cilingir O, Aras BD, Gokalp EE, Arslan S, Temena A, Haziyeva K, Kocagil S, Bas H, Susam E, Keklikci AR, Sarac E, Kocak N, Nergiz S, Terzi YK, Dincer SA, Baskin ES, Genc GC, Bahadir O, Sanri A, Yigit S, Tozkir H, Y… See abstract for full author list ➔ Dundar M, et al. Among authors: sag so. Funct Integr Genomics. 2022 Jun;22(3):291-315. doi: 10.1007/s10142-021-00819-3. Epub 2022 Jan 31. Funct Integr Genomics. 2022. PMID: 35098403
29 results