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13 results

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Page 1
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P,… See abstract for full author list ➔ Travaglini L, et al. Among authors: al tawari aa. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Ethylmalonic encephalopathy-report of two cases.
Heberle LC, Al Tawari AA, Ramadan DG, Ibrahim JK. Heberle LC, et al. Among authors: al tawari aa. Brain Dev. 2006 Jun;28(5):329-31. doi: 10.1016/j.braindev.2005.10.005. Epub 2006 Jan 10. Brain Dev. 2006. PMID: 16376514
Brain MRI features of merosin-negative congenital muscular dystrophy.
Ibrahim Abdulla JK, Vattoth S, Al Tawari AA, Pandey T, Abubacker S. Ibrahim Abdulla JK, et al. Among authors: al tawari aa. Australas Radiol. 2007 Dec;51 Suppl:B221-3. doi: 10.1111/j.1440-1673.2007.01852.x. Australas Radiol. 2007. PMID: 17991069
What syndrome is this? Autosomal recessive type II cutis laxa.
Nanda A, Lionel J, Al-Tawari AA, Anim JT. Nanda A, et al. Among authors: al tawari aa. Pediatr Dermatol. 2004 Mar-Apr;21(2):167-70. doi: 10.1111/j.0736-8046.2004.21217.x. Pediatr Dermatol. 2004. PMID: 15078361 No abstract available.
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: al tawari aa. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
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