Items where Author is "Achermann, John C."

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Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J., Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C. and Metherell, Louise A. (2018) Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3 (1). pp. 201-221. ISSN 2472-1972

Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L., Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C., Van Veldhoven, Paul P., Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay and Metherell, Louise A. (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. Journal of Clinical Investigation, 127 (3). pp. 942-953. ISSN 0021-9738

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