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Number of items: 8.


Bashamboo, A; Ferraz-de-Souza, B; Lourenco, D; Lin, L; Sebire, NJ; Montjean, D; Bignon-Topalovic, J; ... McElreavey, K; + view all (2010) Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. The American Journal of Human Genetics , 87 (4) 505 - 512. 10.1016/j.ajhg.2010.09.009. Green open access

Brain, CE; Creighton, SM; Mushtaq, I; Carmichael, PA; Barnicoat, A; Honour, JW; Larcher, V; (2010) Holistic management of DSD. Best Practice and Research Clinical Endocrinology and Metabolism , 24 (2) 335 - 354. 10.1016/j.beem.2010.01.006. Green open access


Frost, JM; Monk, D; Stojilkovic-Mikic, T; Woodfine, K; Chitty, LS; Murrell, A; Stanier, P; (2010) Evaluation of allelic expression of imprinted genes in adult human blood. PLoS One , 5 (10) , Article e13556. 10.1371/journal.pone.0013556. Green open access


Lassot, I; Robbins, I; Kristiansen, M; Rahmeh, R; Jaudon, F; Magiera, M; Mora, S; ... Desagher, S; + view all (2010) Trim17, novel E3 ubiquitin-ligase, initiates neuronal apoptosis. Cell Death and Differentiation , 17 (12) 1928 - 1941. 10.1038/cdd.2010.73. Green open access

Lopez, LC; Quinzii, CM; Area, E; Naini, A; Rahman, S; Schuelke, M; Salviati, L; ... Hirano, M; + view all (2010) Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects. PLOS ONE , 5 (7) , Article e11897. 10.1371/journal.pone.0011897. Green open access


Morgan, NV; Morris, MR; Cangul, H; Gleeson, D; Straatman-Iwanowska, A; Davies, N; Keenan, S; ... Maher, ER; + view all (2010) Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease. PLoS Genetics , 6 (2) , Article e1000833. 10.1371/journal.pgen.1000833. Green open access


Raychaudhuri, S; Korn, JM; McCarroll, SA; International Schizophrenia, C; Altshuler, D; Sklar, P; Purcell, S; (2010) Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genetics , 6 (9) , Article e1001097. 10.1371/journal.pgen.1001097. Green open access


Sahakitrungruang, T; Soccio, RE; Lang-Muritano, M; Walker, JM; Achermann, JC; Miller, WL; (2010) Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR). The Journal of Clinical Endocrinology & Metabolism , 95 (7) 3352 - 3359. 10.1210/jc.2010-0437. Green open access

This list was generated on Sun Feb 25 23:39:04 2024 GMT.