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Page 1
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F. Piras R, et al. Among authors: utine ge. Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24488861
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.
Demir E, Tuna Kirsaçlioğlu C, Saltik-Temizel İN, Ürel-Demir G, Karaosmanoğlu B, Taşkiran EZ, Şimşek-Kiper PÖ, Utine GE, Kuloğlu Z, Kansu A. Demir E, et al. Among authors: utine ge. Clin Dysmorphol. 2023 Apr 1;32(2):88-91. doi: 10.1097/MCD.0000000000000451. Epub 2023 Feb 13. Clin Dysmorphol. 2023. PMID: 36779798 Review. No abstract available.
Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks.
Gültekin-Zaim ÖB, Yalçın-Çakmaklı G, Çolpak Aİ, Şimşek-Kiper PÖ, Utine GE, Elibol B. Gültekin-Zaim ÖB, et al. Among authors: utine ge. Mov Disord Clin Pract. 2023 Aug 24;10(Suppl 3):S48-S50. doi: 10.1002/mdc3.13778. eCollection 2023 Aug. Mov Disord Clin Pract. 2023. PMID: 37636235 Free PMC article. No abstract available.
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S. Iida A, et al. Among authors: utine ge. Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. Hum Mutat. 2013. PMID: 23824674
144 results