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HURST ACE
Collezione AOU San Luigi di Orbassano

Items : 2

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. in American journal of human genetics / Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30.

2023
AOU San Luigi di Orbassano

Skraban C; Shukarova-Angelovska E; Scheuerle AE; Sellars EA; Reymond A; Schwager CR; Redon S; Rauch A; Rahimi-Aliabadi S; Quélin C; Pugh J; Pullano V; Prijoles EJ; Osmond M; Noyes AG; Nowak CB; Niceta M; Noskova L; Newberry KM; Natowicz M; Napier MP; Montgomery S; Meeks NJL; Medne L; Meadows SK; McEown M; Mattioli F; Mandrile G; Magner M; et alii...

DLG4-related synaptopathy: a new rare brain disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.

2021
AOU San Luigi di Orbassano

Rodríguez-Palmero A; Boerrigter MM; Gómez-Andrés D; Aldinger KA; Marcos-Alcalde Í; Popp B; Everman DB; Lovgren AK; Arpin S; Bahrambeigi V; Beunders G; Bisgaard AM; Bjerregaard VA; Bruel AL; Challman TD; Cogné B; Coubes C; de Man SA; Denommé-Pichon AS; Dye TJ; Elmslie F; Feuk L; García-Miñaúr S; Gertler T; Giorgio E; Gruchy N; Haack TB; Haldeman-Englert CR; Haukanes BI; et alii...