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Parkinsonism & Related Disorders|October 21, 2018
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progressionAlejandra Darling, Sergio Aguilera-Albesa, Cristina Aisha Tello, et al.
Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine|September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritizationAgatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, et al.
Ebiomedicine|April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failureManuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.
International Journal of Molecular Sciences|October 14, 2022
Mutations, Genes, and Phenotypes Related to Movement Disorders and AtaxiasDolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, et al.
Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
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