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Page 1
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. Andreucci E, et al. Among authors: mckinlay gardner rj. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37. Orphanet J Rare Dis. 2011. PMID: 21658220 Free PMC article.
High frequency hearing loss correlated with mutations in the GJB2 gene.
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. Wilcox SA, et al. Among authors: mckinlay gardner rj. Hum Genet. 2000 Apr;106(4):399-405. doi: 10.1007/s004390000273. Hum Genet. 2000. PMID: 10830906
Periventricular heterotopia in common microdeletion syndromes.
van Kogelenberg M, Ghedia S, McGillivray G, Bruno D, Leventer R, Macdermot K, Nelson J, Nagarajan L, Veltman JA, de Brouwer AP, McKinlay Gardner RJ, van Bokhoven H, Kirk EP, Robertson SP. van Kogelenberg M, et al. Among authors: mckinlay gardner rj. Mol Syndromol. 2010 Feb;1(1):35-41. doi: 10.1159/000274491. Epub 2010 Jan 8. Mol Syndromol. 2010. PMID: 20648244 Free PMC article.
A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis.
Aksoy H, Dean G, Elian M, Deng HX, Deng G, Juneja T, Storey E, McKinlay Gardner RJ, Jacob RL, Laing NG, Siddique T. Aksoy H, et al. Among authors: mckinlay gardner rj. Neuroepidemiology. 2003 Jul-Aug;22(4):235-8. doi: 10.1159/000070564. Neuroepidemiology. 2003. PMID: 12792143
12 results