Pediatría
Departamento
Instituto de Investigación Sanitaria Biodonostia
San Sebastián, EspañaPublicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria Biodonostia (35)
2023
-
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
-
Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells
Frontiers in Cell and Developmental Biology, Vol. 11
-
Pharmacokinetic Evaluation of New Drugs Using a Multi-Labelling Approach and PET Imaging: Application to a Drug Candidate with Potential Application in Neuromuscular Disorders
Biomedicines, Vol. 11, Núm. 2
2022
-
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
-
Diet as a risk factor for hypovitaminosis D in the Spanish pediatric population
Revista de Osteoporosis y Metabolismo Mineral, Vol. 13, Núm. 4, pp. 122-129
-
Electroactive 3D printable poly(3,4-ethylenedioxythiophene)-: Graft -poly(ϵ-caprolactone) copolymers as scaffolds for muscle cell alignment
Polymer Chemistry, Vol. 13, Núm. 1, pp. 109-120
-
K-Means Clustering for Shock Classification in Pediatric Intensive Care Units
Diagnostics, Vol. 12, Núm. 8
-
Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
Frontiers in Cell and Developmental Biology, Vol. 10
2021
-
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA
Nature Communications, Vol. 12, Núm. 1
-
3D Printable Conducting and Biocompatible PEDOT-graft-PLA Copolymers by Direct Ink Writing
Macromolecular Rapid Communications, Vol. 42, Núm. 12
-
A Novel Noninvasive Method Based on Salivary Inflammatory Biomarkers for the Screening of Celiac Disease
Cellular and Molecular Gastroenterology and Hepatology
-
A Validated WISC-V Short-Form to Estimate Intellectual Functioning in Very Preterm Children at Early School Age
Frontiers in Psychology, Vol. 12
-
Discovery of a novel family of FKBP12 “reshapers” and their use as calcium modulators in skeletal muscle under nitro-oxidative stress
European Journal of Medicinal Chemistry, Vol. 213
-
Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up
Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287
-
The use of lower or higher than recommended doses of folic acid supplements during pregnancy is associated with child attentional dysfunction at 4–5 years of age in the inma project
Nutrients, Vol. 13, Núm. 2, pp. 1-16
2020
-
A genotyping method combining primer competition PCR with HRM analysis to identify point mutations in Duchenne animal models
Scientific Reports, Vol. 10, Núm. 1
-
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279
-
Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia
Epigenomics, Vol. 12, Núm. 22, pp. 1949-1955
2019
-
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
International Journal of Molecular Sciences, Vol. 20, Núm. 18
-
The methylome of the celiac intestinal epithelium harbours genotype-independent alterations in the HLA region
Scientific Reports, Vol. 9, Núm. 1