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Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019
Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; ... (2017). Phenotypes and genotypes in individuals with SMC1A variants. American journal of medical genetics. Part A, 173(8), pp. 2108-2125. Wiley-Liss 10.1002/ajmg.a.38279
