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Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 918, doi. 10.1111/cge.12931
By:
- Verrigni, D.;
- Diodato, D.;
- Di Nottia, M.;
- Torraco, A.;
- Bellacchio, E.;
- Rizza, T.;
- Tozzi, G.;
- Verardo, M.;
- Piemonte, F.;
- Tasca, G.;
- D'Amico, A.;
- Bertini, E.;
- Carrozzo, R.
Publication type:
Article
Il lavoro in alta quota: fattori di rischio e sorveglianza sanitaria.
Published in:
Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2012, v. 34, p. 235
By:
- Taino, G.;
- Giardini, G.;
- Pecchio, O.;
- Brevi, M.;
- Giorgi, M.;
- Verardo, M. G.;
- Detragiache, E.;
- Imbriani, M.
Publication type:
Article
Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.
Published in:
Clinical Genetics, 2018, v. 93, n. 6, p. 1234, doi. 10.1111/cge.13240
By:
- Fattori, F.;
- Fiorillo, C.;
- Rodolico, C.;
- Tasca, G.;
- Verardo, M.;
- Bellacchio, E.;
- Pizzi, S.;
- Ciolfi, A.;
- Fagiolari, G.;
- Lupica, A.;
- Broda, P.;
- Pedemonte, M.;
- Moggio, M.;
- Bruno, C.;
- Tartaglia, M.;
- Bertini, E.;
- D'Amico, A.
Publication type:
Article
Conserved transcriptional regulation of a cone phototransduction gene in vertebrates
Published in:
FEBS Letters, 2004, v. 577, n. 1/2, p. 259, doi. 10.1016/j.febslet.2004.10.008
By:
- Viczian, A.S.;
- Verardo, M.;
- Zuber, M.E.;
- Knox, B.E.;
- Farber, D.B.
Publication type:
Article
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Published in:
Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1221
By:
- Salvi, S.;
- Dionisi-Vici, C.;
- Bertini, E.;
- Verardo, M.;
- Santorelli, F.M.
Publication type:
Article

Found: 5

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

Il lavoro in alta quota: fattori di rischio e sorveglianza sanitaria.

Expanding the histopathological spectrum of <italic>CFL2</italic>‐related myopathies.

Conserved transcriptional regulation of a cone phototransduction gene in vertebrates

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.