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AMERICAN JOURNAL OF HUMAN GENETICS
Collezione ASL Città di Torino

Items : 2

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum. in American journal of human genetics / Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19.

2025
ASL Città di Torino

Verbinnen I; Douzgou Houge S; Hsieh TC; Lesmann H; Kirchhoff A; Geneviève D; Brimble E; Lenaerts L; Haesen D; Levy RJ; Thevenon J; Faivre L; Marco E; Chong JX; Bamshad M; Patterson K; Mirzaa GM; Foss K; Dobyns W; White SM; Pais L; O'Heir E; Itzikowitz R; Donald KA; Van der Merwe C; Mussa A; Cervini R; Giorgio E; Roscioli T; et alii...

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. in American journal of human genetics / Am J Hum Genet. 2025 Jan 2;112(1):154-167. doi: 10.1016/j.ajhg.2024.11.003. Epub 2024 Dec 19.

2025
ASL Città di Torino
AOU Città della Salute di Torino

Scherer SW; Simone L; Zara F; Russell BE; Nelson SF; Graziano C; Schwab M; Corona RI; Mullegama SV; Douine ED; Helbig I; McDonnell PP; Lusk L; Pedro HF; Parisotto S; Keller R; Pullano V; Brusco A; Granger L; Anadiotis G; Charlebois J; Elsabbagh M; MacDonald JR; Ko SY; Frankland PW; Anagnostou E; Reuter MS; Mendes M; Trost B; et alii...