Publicaciones

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

Marzo 1, 2009

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C. Hum Mutat. 2009 Mar;30(3):454-62

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Marzo 1, 2009

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J. Hum Mutat. 2009 Mar;30(3):E520-9

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models

Marzo 1, 2009

Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI.Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Marzo 1, 2009

Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F. Am J Med Genet A. 2009 Mar;149A(3):343-8

Publicaciones

Orden según fecha de publicación:

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions