No | 記事 | 記事著者 |
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1 | Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrabe Protein ANK | Ernst Reichenberger, Valdenize Tiziani, ... |
2 | De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy | Lieve Claes, Jurgen Del-Favero, ... |
3 | Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex 1 Deficiency | Paule Benit, Dominique Chreiten, ... |