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| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans D Kelberman, K Rizzoti, A Avilion, M Bitner-Glindzicz, S Cianfarani, ... The Journal of clinical investigation 116 (9), 2442-2455, 2006 | 410 | 2006 |
| Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ... The American Journal of Human Genetics 75 (1), 27-34, 2004 | 401 | 2004 |
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| Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1 C Hardy, F Khanim, R Torres, M Scott-Brown, A Seller, J Poulton, ... The American Journal of Human Genetics 65 (5), 1279-1290, 1999 | 235 | 1999 |
| X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. JP Hardelin, J Levilliers, I del Castillo, M Cohen-Salmon, R Legouis, ... Proceedings of the National Academy of Sciences 89 (17), 8190-8194, 1992 | 231 | 1992 |
| The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis R Quinton, VM Duke, PA De Zoysa, AD Platts, A Valentine, B Kendall, ... The Journal of Clinical Endocrinology & Metabolism 81 (8), 3010-3017, 1996 | 224 | 1996 |
| Baricitinib in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial and updated meta-analysis O Abani, A Abbas, F Abbas, J Abbas, K Abbas, M Abbas, S Abbasi, ... The Lancet 400 (10349), 359-368, 2022 | 214 | 2022 |
| WFS1/wolframin mutations, Wolfram syndrome, and associated diseases F Khanim, J Kirk, F Latif, TG Barrett Human mutation 17 (5), 357-367, 2001 | 204 | 2001 |
| Cushing’s syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome JMW Kirk, CE Brain, DJ Carson, JC Hyde, DB Grant The Journal of pediatrics 134 (6), 789-792, 1999 | 170 | 1999 |
| Xp22. 3 deletions in isolated familial Kallmann's syndrome JP Hardelin, J Levilliers, J Young, M Pholsena, R Legouis, J Kirk, ... The Journal of Clinical Endocrinology & Metabolism 76 (4), 827-831, 1993 | 136 | 1993 |
| Phenotypic variability in 17β‐hydroxysteroid dehydrogenase‐3 deficiency and diagnostic pitfalls YS Lee, JMW Kirk, RG Stanhope, DI Johnston, S Harland, RJ Auchus, ... Clinical endocrinology 67 (1), 20-28, 2007 | 135 | 2007 |
| Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth D Hanson, PG Murray, J O'Sullivan, J Urquhart, S Daly, SS Bhaskar, ... The American Journal of Human Genetics 89 (1), 148-153, 2011 | 126 | 2011 |
| Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature DS Millar, MD Lewis, M Horan, V Newsway, TE Easter, JW Gregory, ... Human mutation 21 (4), 424-440, 2003 | 123 | 2003 |
| Short stature in Noonan syndrome: response to growth hormone therapy JMW Kirk, PR Betts, GE Butler, MDC Donaldson, DB Dunger, DI Johnston, ... Archives of disease in childhood 84 (5), 440-443, 2001 | 115 | 2001 |
| Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β … S Parajes, L Loidi, N Reisch, V Dhir, IT Rose, R Hampel, M Quinkler, ... The Journal of Clinical Endocrinology & Metabolism 95 (2), 779-788, 2010 | 111 | 2010 |
| Mutation analysis of POUF‐1, PROP‐1 and HESX‐1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo‐optic dysplasia LA Rainbow, SA Rees, MG Shaikh, NJ Shaw, T Cole, TG Barrett, ... Clinical endocrinology 62 (2), 163-168, 2005 | 108 | 2005 |
