UCL Discovery
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Number of items: 7.


Baker, BY; Lin, L; Kim, CJ; Raza, J; Smith, CP; Miller, WL; Achermann, JC; (2006) Nonclassic congenital lipoid adrenal hyperplasia: A new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. The Journal of Clinical Endocrinology & Metabolism , 91 (12) 4781 - 4785. 10.1210/jc.2006-1565. Green open access

Brooke, AM; Taylor, NF; Shepherd, JH; Gore, ME; Ahmad, T; Lin, L; Rumsby, G; ... Monson, JP; + view all (2006) A novel point mutation in P450c17 (CYP17) causing combined 17 alpha-hydroxylase/17,20-lyase deficiency. The Journal of Clinical Endocrinology & Metabolism , 91 (6) 2428 - 2431. 10.1210/jc.2005-2653. Green open access


Chitty, LS; Kagan, KO; Molina, FS; Waters, JJ; Nicolaides, KH; (2006) Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ-BRITISH MEDICAL JOURNAL , 332 (7539) pp. 452-454. 10.1136/bmj.38730.655197.AE. Green open access


Lin, L; Conway, GS; Hill, NR; Dattani, MT; Hindmarsh, PC; Achermann, JC; (2006) A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. The Journal of Clinical Endocrinology & Metabolism , 91 (12) 5117 - 5121. 10.1210/jc.2006-0807. Green open access

Lin, L; Gu, WX; Ozisik, G; To, WS; Owen, CJ; Jameson, JL; Achermann, JC; (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience. The Journal of Clinical Endocrinology & Metabolism , 91 (8) 3048 - 3054. 10.1210/jc.2006-0603. Green open access


Rahi, JS; Cumberland, PM; Peckham, CS; (2006) Does amblyopia affect educational, health, and social outcomes? Findings from 1958 British birth cohort. BRIT MED J , 332 (7545) 820 - 824. 10.1136/bmj.38751.597963.AE. Green open access


Samad, L; Tate, AR; Dezateux, C; Peckham, C; Butler, N; Bedford, H; (2006) Differences in risk factors for partial and no immunisation in the first year of life: prospective cohort study. BMJ-BRITISH MEDICAL JOURNAL , 332 (7553) pp. 1312-1313. 10.1136/bmj.332.7553.1312. Green open access

This list was generated on Sun Feb 25 23:38:35 2024 GMT.