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Nuber, Franziska; Schimpf, Johannes; di Rago, Jean-Paul; Tribouillard-Tanvier, Déborah; Procaccio, Vincent; Martin-Negrier, Marie-Laure; Trimouille, Aurélien; Biner, Olivier; von Ballmoos, Christoph; Friedrich, Thorsten (2021). Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I. Scientific reports, 11(1), p. 12641. Springer Nature 10.1038/s41598-021-91631-3
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; ... (2021). De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics, 59(10), pp. 965-975. BMJ Publishing Group 10.1136/jmedgenet-2021-107751
