María García Barcina-rekin lankidetzan egindako argitalpenak (10)

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability

    Scientific Reports, Vol. 7, Núm. 1

2013

  1. Brachydactyly E: Isolated or as a feature of a syndrome

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

  2. Fine Mapping and Functional Analysis of the Multiple Sclerosis Risk Gene CD6

    PLoS ONE, Vol. 8, Núm. 4

  3. Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

    Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33

2012

  1. Replication study of 10 genes showing evidence for association with multiple sclerosis: Validation of TMEM39A, IL12B and CLBL genes

    Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 959-965

2011

  1. Replication of top markers of a genome-wide association study in multiple sclerosis in Spain

    Genes and Immunity, Vol. 12, Núm. 2, pp. 110-115

2010

  1. The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

    Genes and Immunity, Vol. 11, Núm. 5, pp. 439-445