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Genes|July 29, 2025
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn SyndromeJulián Nevado, Raquel Blanco-Lago, Cristina Bel-Fenellós, et al.Neuropediatrics|March 3, 2021
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational StudyAntonio Hedrera-Fernandez, Ramon Cancho-Candela, Marta Arribas-Arceredillo, et al.Frontiers in Genetics|May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 IndividualsJulián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.Neuromuscular Disorders : NMD|December 13, 2023
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registryRafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, et al.Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.Pageof 2