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114 results

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Page 1
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG. Valente EM, et al. Among authors: fede c. Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30. Nat Genet. 2010. PMID: 20512146 Free PMC article.
Arthritis and gum bleeding in two children.
Vitale A, La Torre F, Martini G, Calcagno G, Fede C, Conti G, Chimenz R, Zulian F. Vitale A, et al. Among authors: fede c. J Paediatr Child Health. 2009 Mar;45(3):158-60. doi: 10.1111/j.1440-1754.2009.01466.x. J Paediatr Child Health. 2009. PMID: 19317761
Hypokalaemia and failure to thrive: report of a misleading onset.
Conti G, Vitale A, Tedeschi S, Syrén ML, Pantano R, Chimenz R, Fede S, La Torre F, Coviello D, Fede C. Conti G, et al. Among authors: fede s, fede c. J Paediatr Child Health. 2010 May;46(5):276-7. doi: 10.1111/j.1440-1754.2009.01684.x. Epub 2010 Apr 16. J Paediatr Child Health. 2010. PMID: 20412406
Best practice guidelines for idiopathic nephrotic syndrome: recommendations versus reality.
Pasini A, Aceto G, Ammenti A, Ardissino G, Azzolina V, Bettinelli A, Cama E, Cantatore S, Crisafi A, Conti G, D'Agostino M, Dozza A, Edefonti A, Fede C, Groppali E, Gualeni C, Lavacchini A, Lepore M, Maringhini S, Mariotti P, Materassi M, Mencarelli F, Messina G, Negri A, Piepoli M, Ravaglia F, Simoni A, Spagnoletta L, Montini G; NefroKid Study Group. Pasini A, et al. Among authors: fede c. Pediatr Nephrol. 2015 Jan;30(1):91-101. doi: 10.1007/s00467-014-2903-7. Epub 2014 Aug 17. Pediatr Nephrol. 2015. PMID: 25127916 Free PMC article. Clinical Trial.
114 results