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Búsqueda de Publicación - Prisma - Unidad de Bibliometría

Publicaciones en la fuente JOURNAL OF MEDICAL GENETICS

Tipo Año Título Fuente
Artículo2023Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing eventsJOURNAL OF MEDICAL GENETICS
Artículo2020Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaJOURNAL OF MEDICAL GENETICS
Artículo2020Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's diseaseJOURNAL OF MEDICAL GENETICS
Artículo2016Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activationJOURNAL OF MEDICAL GENETICS
Artículo2013Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of familiesJOURNAL OF MEDICAL GENETICS
Artículo2009Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex familyJOURNAL OF MEDICAL GENETICS
Artículo2009Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeJOURNAL OF MEDICAL GENETICS
Artículo2009Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNAJOURNAL OF MEDICAL GENETICS
Artículo2008Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patientsJOURNAL OF MEDICAL GENETICS
Revisión2008Hirschsprung disease, associated syndromes and genetics: a reviewJOURNAL OF MEDICAL GENETICS
Artículo2008Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish populationJOURNAL OF MEDICAL GENETICS
Artículo2006Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type IIJOURNAL OF MEDICAL GENETICS
Artículo2005Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at-1249JOURNAL OF MEDICAL GENETICS
Artículo2003Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing lossJOURNAL OF MEDICAL GENETICS
Letter2003Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.JOURNAL OF MEDICAL GENETICS
Artículo2003Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.JOURNAL OF MEDICAL GENETICS
Artículo2003Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patientsJOURNAL OF MEDICAL GENETICS
Letter2001Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locusJOURNAL OF MEDICAL GENETICS
Letter2000Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r)JOURNAL OF MEDICAL GENETICS
Letter2000Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25)JOURNAL OF MEDICAL GENETICS
Artículo2000RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung diseaseJOURNAL OF MEDICAL GENETICS
Artículo1999CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasiaJOURNAL OF MEDICAL GENETICS
Artículo1999High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in SpainJOURNAL OF MEDICAL GENETICS
Artículo1999Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expressionJOURNAL OF MEDICAL GENETICS
Artículo1997Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334WJOURNAL OF MEDICAL GENETICS
Artículo1996Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentationJOURNAL OF MEDICAL GENETICS