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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

van Drie E; van de Burgt I; van de Laar IMBH; van Bon B; Mau-Them FT; Thiese H; Spranger S; Shieh JT; Shohat M; Shaw-Smith C; Shad Z; Schönewolf-Greulich B; Schlüter A; Savatt JM; Sarrazin E; Ruivenkamp CAL; Ross MJ; Revah-Politi A; Repnikova E; Rauch A; Pode-Shakked B; Pfundt R; Parikh S; Pacio-Míguez M; Palomares-Bralo M; O'Leary M; Müller AJ; Moutton S; Morton JE; et alii...