Visualitza per autor "Vélez Santamaria, Valentina"
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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)