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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. Rosti RO, et al. Among authors: tasdemir m. J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9. J Med Genet. 2017. PMID: 28280135
A rare cause of chronic hyponatremia in an infant: Questions.
Mutlu GY, Taşdemir M, Kızılkan NU, Güran T, Hatun Ş, Kayserili H, Bilge I. Mutlu GY, et al. Among authors: tasdemir m. Pediatr Nephrol. 2020 Feb;35(2):241-242. doi: 10.1007/s00467-019-04335-2. Epub 2019 Aug 19. Pediatr Nephrol. 2020. PMID: 31428927 No abstract available.
A rare cause of chronic hyponatremia in an infant: Answers.
Mutlu GY, Taşdemir M, Kızılkan NU, Güran T, Hatun Ş, Kayserili H, Bilge I. Mutlu GY, et al. Among authors: tasdemir m. Pediatr Nephrol. 2020 Feb;35(2):243-245. doi: 10.1007/s00467-019-04337-0. Epub 2019 Aug 19. Pediatr Nephrol. 2020. PMID: 31428928 No abstract available.
An 8-month-old infant with hypercalcemia and hyperphosphatemia-Answers.
Özler O, Mutlu GY, Taşdemir M, Avcı Ş, Bilge I, Hatun Ş. Özler O, et al. Among authors: tasdemir m. Pediatr Nephrol. 2021 Mar;36(3):563-566. doi: 10.1007/s00467-020-04666-5. Epub 2020 Jun 25. Pediatr Nephrol. 2021. PMID: 32588225 No abstract available.
130 results