검색결과 : 2건
| No. | Article |
|---|---|
| 1 |
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6 Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Bernardina BD, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM Biochemical and Biophysical Research Communications, 379(4), 892, 2009 |
| 2 |
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy Genmaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F Biochemical and Biophysical Research Communications, 341(2), 489, 2006 |