GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘...

por Audí, L, Ahmed, S F, Krone, N, Cools, M, McElreavey, K, Holterhus, P M, Greenfield, A, Bashamboo, A, Hiort, O, Wudy, S A, McGowan, R
Publicado 2018

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’

por Kulle, A, Krone, N, Holterhus, P M, Schuler, G, Greaves, R F, Juul, A, de Rijke, Y B, Hartmann, M F, Saba, A, Hiort, O, Wudy, S A
Publicado 2017

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

por Hughes, L A, McKay-Bounford, K, Webb, E A, Dasani, P, Clokie, S, Chandran, H, McCarthy, L, Mohamed, Z, Kirk, J M W, Krone, N P, Allen, S, Cole, T R P
Publicado 2019

Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling

por Lavery, G G, Idkowiak, J, Sherlock, M, Bujalska, I, Ride, J P, Saqib, K, Hartmann, M F, Hughes, B, Wudy, S A, De Schepper, J, Arlt, W, Krone, N, Shackleton, C H, Walker, E A, Stewart, P M
Publicado 2013

Stress-inducible-stem cells: a new view on endocrine, metabolic and mental disease?

por Bornstein, S R, Steenblock, C, Chrousos, G P, Schally, A V, Beuschlein, F, Kline, G, Krone, N P, Licinio, J, Wong, M L, Ullmann, E, Ruiz-Babot, G, Boehm, B O, Behrens, A, Brennand, A, Santambrogio, A, Berger, I, Werdermann, M, Sancho, R, Linkermann, A, Lenders, J W, Eisenhofer, G, Andoniadou, C L
Publicado 2018