Browsing by Author "Verdura, Edgard"
Now showing items 1-2 of 2
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Verdura, Edgard; Rodriguez-Palmero Seuma, Agusti; Vélez Santamaria, Valentina; Planas Serra, Laura; de la Calle, Irene; Raspall Chaure, Miquel (Oxford University Press, 2021-09) -
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
Verdura, Edgard; Senger, Bruno; Raspall Chaure, Miquel; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Macaya Ruíz, Alfons (BMJ, 2022-12)