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Journal Article
Pavinato, Lisa 
ORCID: 0000-0002-7630-8365, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Tartaglia, Marco, Pessia, Mauro ORCID: 0000-0002-2857-6795, Tucker, Stephen J., D'Adamo, Maria Cristina ORCID: 0000-0002-6758-6064 and Brusco, Alfredo
(2021).
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int. J. Mol. Sci., 22 (11).
BASEL:
MDPI.
ISSN 1422-0067
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Trajkova, Slavica ORCID: 0000-0002-0178-5327, Grosso, Enrico, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Radio, Francesca Clementina ORCID: 0000-0003-1993-8018, Pippucci, Tommaso ORCID: 0000-0001-7737-7963, Dimartino, Paola, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Petlichkovski, Aleksandar ORCID: 0000-0002-1956-4063, De Rubeis, Silvia, Buxbaum, Joseph, Ferrero, Giovanni Battista, Keller, Roberto ORCID: 0000-0002-6873-9827 and Brusco, Alfredo
(2021).
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am. J. Med. Genet. A, 185 (6).
S. 1712 - 1721.
HOBOKEN:
WILEY.
ISSN 1552-4833