UCL Discovery
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Number of items: 4.


Andoniadou, CL; Signore, M; Sajedi, E; Gaston-Massuet, C; Kelberman, D; Burns, AJ; Itasaki, N; ... Martinez-Barbera, JP; + view all (2007) Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain. DEVELOPMENT , 134 (8) 1499 - 1508. 10.1242/dev.02829. Green open access

Lin, L; Hindmarsh, PC; Metherell, LA; Alzyoud, M; Al-Ali, M; Brain, CE; Clark, AJL; ... Achermann, JC; + view all (2007) Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clinical Endocrinology , 66 (2) 205 - 210. 10.1111/j.1365-2265.2006.02709.x. Green open access

Lin, L; Philibert, P; Ferraz-de-Souza, B; Kelberman, D; Homfray, T; Albanese, A; Molini, V; ... Achermann, JC; + view all (2007) Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. The Journal of Clinical Endocrinology & Metabolism , 92 (3) 991 - 999. 10.1210/jc.2006-1672. Green open access

Runne, H; Kuhn, A; Wild, EJ; Pratyaksha, W; Kristiansen, M; Isaacs, JD; Regulier, E; ... Luthi-Carter, R; + view all (2007) Analysis of potential transcriptomic biomarkers for Huntington's disease in peripheral blood. Proceedings of the National Academy of Sciences , 104 (36) 14424 - 14429. 10.1073/pnas.0703652104. Green open access

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