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Page 1
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases.
Oz Tuncer G, Teber S, Kutluk MG, Albayrak P, Deda G. Oz Tuncer G, et al. Among authors: teber s. J Neuromuscul Dis. 2017;4(1):93-95. doi: 10.3233/JND-160188. J Neuromuscul Dis. 2017. PMID: 28106564 No abstract available.
Childhood migraine and hypercoagulopathy.
Teber S, Akar N, Deda G. Teber S, et al. Br J Haematol. 2011 Nov;155(4):527-8. doi: 10.1111/j.1365-2141.2011.08718.x. Epub 2011 May 25. Br J Haematol. 2011. PMID: 21615378 Free article. No abstract available.
Treatment challenges in pediatric stroke patients.
Yılmaz A, Teber S, Bektaş O, Akar N, Uysal LZ, Aksoy E, Deda G. Yılmaz A, et al. Among authors: teber s. Stroke Res Treat. 2010 Dec 28;2011:534362. doi: 10.4061/2011/534362. Stroke Res Treat. 2010. PMID: 21234312 Free PMC article.
85 results