검색결과 : 2건
No. | Article |
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1 |
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C Biochemical and Biophysical Research Communications, 430(1), 241, 2013 |
2 |
Novel FAM126A mutations in hypomyelination and congenital cataract disease Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R Biochemical and Biophysical Research Communications, 439(3), 369, 2013 |