Relative contributions of inferior petrosal sinus sampling and pituitary imaging in the investigation of children and adolescents with ACTH-dependent Cushing's syndrome. by Lienhardt, A, Grossman, AB, Dacie, J, Evanson, J, Huebner, A, Afshar, F, Plowman, P, Besser, G, Savage, M

Cushing's disease in childhood: presentation, investigation, treatment and long-term outcome. by Savage, M, Lienhardt, A, Lebrethon, M, Johnston, L, Huebner, A, Grossman, AB, Afshar, F, Plowman, P, Besser, G

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. by Müller, J, Baumeister, S, Schara, U, Cossins, J, Krause, S, von der Hagen, M, Huebner, A, Webster, R, Beeson, D, Lochmüller, H, Abicht, A

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. by Metherell, L, Naville, D, Halaby, G, Begeot, M, Huebner, A, Nürnberg, G, Nürnberg, P, Green, J, Tomlinson, J, Krone, N, Lin, L, Racine, M, Berney, D, Achermann, J, Arlt, W, Clark, A

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. by Müller, J, Herczegfalvi, A, Vilchez, J, Colomer, J, Bachinski, L, Mihaylova, V, Santos, M, Schara, U, Deschauer, M, Shevell, M, Poulin, C, Dias, A, Soudo, A, Hietala, M, Aärimaa, T, Krahe, R, Karcagi, V, Huebner, A, Beeson, D, Abicht, A, Lochmüller, H