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Journal of Neuromuscular Diseases|March 15, 2024
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital MyopathyBerta Estévez-Arias, Leslie Matalonga, Loreto Martorell, et al.International Journal of Molecular Sciences|October 16, 2024
ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN AssemblyLaura Domínguez-Berzosa, Lara Cantarero, María Rodríguez-Sanz, et al.The Journal of Molecular Diagnostics : JMD|November 23, 2020
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare DiseasesJordi Pijuan, María Rodríguez-Sanz, Daniel Natera-de Benito, et al.European Journal of Nutrition|May 12, 2012
Influence of breastfeeding versus formula feeding on lymphocyte subsets in infants at risk of coeliac disease: the PROFICEL studyTamara Pozo-Rubio, Amalia Capilla, Jorge R Mujico, et al.Pediatric Neurology|April 24, 2021
Copper Toxicity Associated With an ATP7A-Related Complex PhenotypeDaniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, et al.Pediatric Neurology|December 17, 2020
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric CohortDaniel Natera-de Benito, Carlos Ortez, Cristina Jou, et al.Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.Applied and Environmental Microbiology|June 7, 2011
Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides speciesEster Sánchez, Giada De Palma, Amalia Capilla, et al.International Journal of Molecular Sciences|October 16, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme GenesAlba Pascual, Thaleia Moulka, Oriol de Fàbregues, et al.Plos One|February 10, 2012
Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL studyGiada De Palma, Amalia Capilla, Esther Nova, et al.Pageof 12