| No | 記事 | 記事著者 |
|---|
| 1 | Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with .. | Kenichiro Yamada, Yasukazu Yamada, ... |
| 2 | The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex 2 in the ... | Anne-Paule Gimenez-Roqueplo, Judith Favier, ... |
| 3 | Mutations in the Fukutin-Related Protein Gene(FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin ... | Martin Brockington, Derek J. Blake, ... |