Practical endocrinology and diabetes in children / Malcolm D. C. Donaldson [and three others]. [elektronicky zdroj]

Autor: Donaldson, Malcolm D. C., author

Externí odkaz: Kolekce e-knih KNAV

Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial

Autor: Gault, Emma Jane, Perry, Rebecca J, Cole, Tim J, Casey, Sarah, Paterson, Wendy F, Hindmarsh, Peter C, Betts, Peter, Dunger, David B, Donaldson, Malcolm D C

Publikováno v: BMJ: British Medical Journal, 2011 Apr . 342(7803), 907-907.

Externí odkaz: https://www.jstor.org/stable/41150310

Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing

Autor: 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., Metherell, Louise A.

Publikováno v: Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, H M, Capper, C P, Burgos-Tirado, N, Prasad, R, Hughes, C R, Maudhoo, A, Crowne, E, Cheetham, T D, Brain, C E, Suntharalingham, J P, Striglioni, N, Yuksel, B, Gurbuz, F, Gupta, S, Lindsay, R, Couch, R, Spoudeas, H A, Guran, T, Johnson, S, Fowler, D J, Conwell, L S, McInerney-Leo, A M, Drui, D, Cariou, B, Lopez-Siguero, J P, Harris, M, Duncan, E L, Hindmarsh, P C, Auchus, R J, Donaldson, M D, Achermann, J C & Metherell, L A 2019, ' Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing ', Journal of the Endocrine Society, vol. 3, no. 1, pp. 201-221 . https://doi.org/10.1210/js.2018-00130

Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aad977e1cd6cce8fd909cfa021bf2e0d

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