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Page 1
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Lemke JR, et al. Among authors: strozzi s. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. Epilepsia. 2012. PMID: 22612257 Free article.
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.
Steinlin M, Klein A, Haas-Lude K, Zafeiriou D, Strozzi S, Müller T, Gubser-Mercati D, Schmitt Mechelke T, Krägeloh-Mann I, Boltshauser E. Steinlin M, et al. Among authors: strozzi s. Eur J Paediatr Neurol. 2007 May;11(3):146-52. doi: 10.1016/j.ejpn.2006.11.012. Epub 2007 Feb 22. Eur J Paediatr Neurol. 2007. PMID: 17320436
[Lymphadenopathy and absences].
Staub E, Strozzi S, Aebi C. Staub E, et al. Among authors: strozzi s. Praxis (Bern 1994). 2007 May 16;96(20):815-7. doi: 10.1024/1661-8157.96.20.815. Praxis (Bern 1994). 2007. PMID: 17566418 German.
[Suspected muscular disease: what to do?].
Strozzi S, Steinlin M. Strozzi S, et al. Ther Umsch. 2003 Jul;60(7):399-406. doi: 10.1024/0040-5930.60.7.399. Ther Umsch. 2003. PMID: 12956033 German.
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.
14 results