Publicaciones

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Febrero 1, 2010

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih…

Detalles

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

Febrero 1, 2010

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Eur J Hum Genet. 2010 Jul;18(7):788-93. Epub 2010 Feb 10.

Esophageal atresia in the Goldenhar syndrome

Enero 1, 2010

Ayuso Velasco R, Torres Aguirre A, Enríquez Zarabozo E, Galán Gómez E, Blesa Sánchez E. Cir Pediatr. 2010 Jan;23(1):65-7. Spanish

Digestive malformations and their associations to syndrome condition and genetic defects

Enero 1, 2010

Enríquez Zarabozo E, Blesa Sánchez E, Ayuso Velasco R, Galán Gómez E. Cir Pediatr. 2010 Jan;23(1):46-52. Spanish

Publicaciones

Orden según fecha de publicación:

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

Esophageal atresia in the Goldenhar syndrome

Digestive malformations and their associations to syndrome condition and genetic defects