Publicacións (22) Publicacións nas que participase algún/ha investigador/a

2018

  1. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

    Movement Disorders, Vol. 33, Núm. 6, pp. 992-999

  2. Alpha-1 Antitrypsin Deficiency Associated with the PI*Q0ourém Allele in a 2-Year-old Girl and Family Study. An Unusual Case

    Archivos de Bronconeumologia, Vol. 54, Núm. 4, pp. 228-230

  3. Anatomical recovery of the GABAergic system after a complete spinal cord injury in lampreys

    Neuropharmacology, Vol. 131, pp. 389-402

  4. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  5. Comparison of the anti-inflammatory effect of aripiprazole and risperidone in 75 drug-naïve first episode psychosis individuals: A 3 months randomized study

    Schizophrenia Research, Vol. 202, pp. 226-233

  6. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

  7. Continuous glucose monitoring is more sensitive than HbA1c and fasting glucose in detecting dysglycaemia in a Spanish population without diabetes

    Diabetes Research and Clinical Practice, Vol. 142, pp. 100-109

  8. Dendrimer-based uneven nanopatterns to locally control surface adhesiveness: A method to direct chondrogenic differentiation

    Journal of Visualized Experiments, Vol. 2018, Núm. 131

  9. Direct, indirect and total effectiveness of bivalent HPV vaccine in women in Galicia, Spain

    PLoS ONE, Vol. 13, Núm. 8

  10. Duración de la quimioterapia adyuvante en el cáncer de colon estadio III

    MPG Journal, Vol. 1, Núm. 39

  11. Effects of oral supplementation with docosahexaenoic acid (DHA) plus antioxidants in pseudoexfoliative glaucoma: A 6-Month open-label randomized trial

    Journal of Ophthalmology, Vol. 2018

  12. Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report

    Medicine (United States), Vol. 97, Núm. 42

  13. GABA promotes survival and axonal regeneration in identifiable descending neurons after spinal cord injury in larval lampreys

    Cell Death and Disease, Vol. 9, Núm. 6

  14. Geographical differences in blood potassium detected using a structured additive distributional regression model

    Spatial Statistics, Vol. 24, pp. 1-13

  15. Glycated hemoglobin: A powerful tool not used enough in primary care

    Journal of Clinical Laboratory Analysis, Vol. 32, Núm. 3

  16. Immunoglobulin and T cell receptor genes in Chinese crocodile lizard Shinisaurus crocodilurus

    Molecular Immunology, Vol. 101, pp. 160-166

  17. Immunoglobulin genes in Primates

    Molecular Immunology, Vol. 101, pp. 353-363

  18. Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment

    Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432

  19. Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

    Acta Myologica, Vol. 37, Núm. 2, pp. 117-120

  20. Prioritization of variants detected by next generation sequencing according to the mutation tolerance and mutational architecture of the corresponding genes

    International Journal of Molecular Sciences, Vol. 19, Núm. 6