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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM. Romani M, et al. Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72. Orphanet J Rare Dis. 2014. PMID: 24886560 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.
Movement disorders in neuro-metabolic diseases.
Gouider-Khouja N, Kraoua I, Benrhouma H, Fraj N, Rouissi A. Gouider-Khouja N, et al. Eur J Paediatr Neurol. 2010 Jul;14(4):304-7. doi: 10.1016/j.ejpn.2009.11.005. Epub 2009 Dec 16. Eur J Paediatr Neurol. 2010. PMID: 20015670 Review.
Status dystonicus in childhood.
Touati N, Ben Rhouma H, Kraoua I, Klaa H, Turki I, Gouider-Khouja N. Touati N, et al. Among authors: gouider khouja n. Tunis Med. 2015 Dec;93(12):756-9. Tunis Med. 2015. PMID: 27249384 Free article.
58 results