Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | No Grouping
Number of items: 4.

Journal Article

Pavinato, Lisa ORCID: 0000-0002-7630-8365, Villamor-Paya, Marina ORCID: 0000-0002-7288-4197, Sanchiz-Calvo, Maria, Andreoli, Cristina ORCID: 0000-0003-3724-0668, Gay, Marina ORCID: 0000-0002-8827-7092, Vilaseca, Marta ORCID: 0000-0002-1666-1300, Arauz-Garofalo, Gianluca ORCID: 0000-0001-5166-6054, Ciolfi, Andrea ORCID: 0000-0002-6191-0978, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Pippucci, Tommaso, Prota, Valentina ORCID: 0000-0003-2336-9954, Carli, Diana ORCID: 0000-0001-5690-6504, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Radio, Francesca Clementina, Antona, Vincenzo, Giuffre, Mario, Ranguin, Kara, Colson, Cindy, De Rubeis, Silvia, Dimartino, Paola ORCID: 0000-0002-6521-1082, Buxbaum, Joseph D., Ferrero, Giovanni Battista, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Martinelli, Simone, Stracker, Travis H. and Brusco, Alfredo ORCID: 0000-0002-8318-7231 (2022). Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. J. Med. Genet., 59 (2). S. 170 - 180. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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

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

Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C. (2018). Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J. Med. Genet., 55 (12). S. 837 - 846. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

This list was generated on Mon Feb 26 11:08:55 2024 CET.