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A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. Odaman-Al I, et al. Among authors: gezdirici a. Turk J Pediatr. 2019;61(2):257-260. doi: 10.24953/turkjped.2019.02.015. Turk J Pediatr. 2019. PMID: 31951336 Free article.
Odaman-Al I, Gezdirici A, Yildiz M, Ersoy G, Aydogan G, Salcioglu Z, Tahtakesen TN, Onal H, Kucukemre-Aydin B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. ...
Odaman-Al I, Gezdirici A, Yildiz M, Ersoy G, Aydogan G, Salcioglu Z, Tahtakesen TN, Onal H, Kucukemre-Aydin B. A novel …
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. Odaman-Al I, et al. Among authors: gezdirici a. Turk J Pediatr. 2019;61(2):257-260. doi: 10.24953/turkjped.2019.02.015. Turk J Pediatr. 2019. PMID: 31951337 Free article.
Odaman-Al I, Gezdirici A, Yildiz M, Ersoy G, Aydogan G, Salcioglu Z, Tahtakesen TN, Onal H, Kucukemre-Aydin B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. ...
Odaman-Al I, Gezdirici A, Yildiz M, Ersoy G, Aydogan G, Salcioglu Z, Tahtakesen TN, Onal H, Kucukemre-Aydin B. A novel …
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. Loges NT, et al. Among authors: gezdirici a. Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471718 Free PMC article.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H. Ta-Shma A, et al. Among authors: gezdirici a. PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30148830 Free PMC article.
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, Bornaun H, Tanidir IC, Van Dinh T, Brunner HG, Walentek P, Arnold SJ, Backofen R, Schmidts M. Antony D, et al. Among authors: gezdirici a. Front Genet. 2022 Apr 13;13:861236. doi: 10.3389/fgene.2022.861236. eCollection 2022. Front Genet. 2022. PMID: 35547246 Free PMC article.
89 results