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Early Human Development|January 18, 2011
Early visual assessment in preterm infants with and without brain lesions: correlation with visual and neurodevelopmental outcome at 12 monthsDaniela Ricci, Domenico M Romeo, Francesca Gallini, et al.Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.Frontiers in Immunology|July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohortBenedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.Pageof 5