Susana Balcells Comas-rekin lankidetzan egindako argitalpenak (7)

1997

  1. Putative association of a mutant ROM1 allele with retinitis pigmentosa

    Human Genetics, Vol. 99, Núm. 6, pp. 827-830

1996

  1. A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

    Human Genetics, Vol. 97, Núm. 1, pp. 35-38

  2. Autosomal recessive retinitis pigmentosa in Spain: Evaluation of four genes and two loci involved in the disease

    Clinical Genetics, Vol. 50, Núm. 5, pp. 380-387

  3. Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a spanish family with autosomal recessive retinitis pigmentosa

    Human Mutation, Vol. 8, Núm. 4, pp. 393-394

1995

  1. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

    Human Genetics, Vol. 96, Núm. 1, pp. 89-94

  2. Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

    Human Mutation, Vol. 5, Núm. 3, pp. 228-234

1994

  1. Genetic fine localization of the arrestin (S-antigen) gene 4 c M distal from D2S172

    Human Genetics, Vol. 94, Núm. 2, pp. 193-194