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Items: 3

1.
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
Yonatan Perez, Libe Gradstein, Hagit Flusser, Barak Markus, Idan Cohen, Yshaia Langer, Mira Marcus, Tova Lifshitz, Rotem Kadir, Ohad S Birk
Eur J Hum Genet. 2014 May; 22(5): 703–706. Published online 2013 Sep 18. doi: 10.1038/ejhg.2013.212
PMCID:
PMC3992574
AbstractArticlePDF–1.0M
2.
Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study
Shu-Yi Liao, Xihong Lin, David C Christiani
Environ Health. 2013; 12: 101. Published online 2013 Dec 1. doi: 10.1186/1476-069X-12-101
PMCID:
PMC3882096
AbstractArticlePDF–596K
3.
Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
James A. Poulter, Musallam Al-Araimi, Ivan Conte, Maria M. van Genderen, Eamonn Sheridan, Ian M. Carr, David A. Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I. Sergouniotis, Andrew R. Webster, Anthony T. Moore, Bishwanath Pal, Moin D. Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty, Murugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn, Carmel Toomes
Am J Hum Genet. 2013 Dec 5; 93(6): 1143–1150. doi: 10.1016/j.ajhg.2013.11.002
PMCID:
PMC3853409
AbstractArticlePDF–1.7M

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