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Annals of Human Genetics|September 7, 2007
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRsI Barragán, S Borrego, M M Abd El-Aziz, et al.Journal of Medical Genetics|August 3, 2000
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung diseaseS Borrego, A Ruiz, M E Saez, et al.Annals of Human Genetics|May 31, 2008
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 intervalM M Abd El-Aziz, I Barragan, C O'Driscoll, et al.Neurologia (Barcelona, Spain)|March 13, 2016
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 casesI Vieitez, P Gallano, L González-Quereda, et al.European Journal of Neurology|February 23, 2019
Clinical applicability of diagnostic biomarkers in early-onset cognitive impairmentN Falgàs, A Tort-Merino, M Balasa, et al.Ophthalmic Genetics|August 1, 2000
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)M M Beneyto, J M Cuevas, J M Millán, et al.Journal of Medical Genetics|June 26, 2010
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestorS Bernal, L Alías, M J Barceló, et al.Histology and Histopathology|December 13, 2012
Phenotypic characterization of hereditary epithelial ovarian cancer based on a tissue microarray studyI Muñoz-Repeto, M J García, M Kamieniak, et al.British Journal of Cancer|April 6, 2013
DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomasM M Kamieniak, I Muñoz-Repeto, D Rico, et al.Journal of Medical Genetics|October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a reviewJ Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.Pageof 4