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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. Garcia Segarra N, et al. Among authors: utine ge. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791401 Review.
Evaluation of polysomnography findings in children with genetic skeletal disorders.
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U. Nayır Büyükşahin H, et al. Among authors: utine ge. J Sleep Res. 2023 Oct;32(5):e13914. doi: 10.1111/jsr.13914. Epub 2023 May 1. J Sleep Res. 2023. PMID: 37128177
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.
135 results