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Page 1
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: akil i. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. Korkmaz E, et al. J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12. J Am Soc Nephrol. 2016. PMID: 25967120 Free PMC article.
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K, Tasic V, Bogdanovic R, Miljkovic P, Golubovic E, Soylu A, Saraga M, Pavicevic S, Baskin E, Akil I, Gregoric A, Lilova M, Topaloglu R, Sukarova Stefanovska E, Plaseska-Karanfilska D. Popovska-Jankovic K, et al. Among authors: akil i. Urolithiasis. 2013 Feb;41(1):21-30. doi: 10.1007/s00240-012-0531-x. Epub 2012 Dec 27. Urolithiasis. 2013. PMID: 23532419
Reno-vascular hypertension in childhood: a nationwide survey.
Bayazit AK, Yalcinkaya F, Cakar N, Duzova A, Bircan Z, Bakkaloglu A, Canpolat N, Kara N, Sirin A, Ekim M, Oner A, Akman S, Mir S, Baskin E, Poyrazoglu HM, Noyan A, Akil I, Bakkaloglu S, Soylu A. Bayazit AK, et al. Among authors: akil i. Pediatr Nephrol. 2007 Sep;22(9):1327-33. doi: 10.1007/s00467-007-0520-4. Epub 2007 May 30. Pediatr Nephrol. 2007. PMID: 17534666
Autopsy findings of a case with oxalosis.
Doganavsargil B, Akil I, Sen S, Mir S, Basdemir G. Doganavsargil B, et al. Among authors: akil i. Pediatr Dev Pathol. 2009 May-Jun;12(3):229-32. doi: 10.2350/07-06-0293.1. Pediatr Dev Pathol. 2009. PMID: 19736658
43 results