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Author/Creator Renieri, A

1. A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. Issue 1 (1st January 2003)

Authors:
Longo, I; Frints, S G M; Fryns, J-P; Meloni, I; Pescucci, C; Ariani, F; Borghgraef, M; Raynaud, M; Marynen, P; Schwartz, C; Renieri, A; Froyen, G
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 1(2003)
Page Start:
11
Record Type:
Journal Article
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7. Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. Issue 2 (1st February 2003)

Authors:
Giordano, N; Gennari, L; Bruttini, M; Mari, F; Meloni, I; Baldi, C; Capoccia, S; Geraci, S; Merlotti, D; Amendola, A; Martini, G; Nuti, R; Gennari, C; Renieri, A
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 2(2003)
Page Start:
132
Record Type:
Journal Article
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8. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. Issue 1 (2nd July 2009)

Authors:
Mencarelli, M A; Spanhol-Rosseto, A; Artuso, R; Rondinella, D; De Filippis, R; Bahi-Buisson, N; Nectoux, J; Rubinsztajn, R; Bienvenu, T; Moncla, A; Chabrol, B; Villard, L; Krumina, Z; Armstrong, J; Roche, A; Pineda, M; Gak, E; Mari, F; Ariani, F; Renieri, A
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 1(2010)
Page Start:
49
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗