Concepedia

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Koji M. Nishiguchi, Almudena Ávila‐Fernández, Ramon A. C. van Huet, Marta Cortón, Raquel Pérez-Carro, Esther Martín-Garrido, María Isabel López-Molina, Fiona Blanco‐Kelly, Lies H. Hoefsloot, Wendy A. van Zelst-Stams,

Ophthalmology · 2014 · 55 citations · 26 references

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References

26

A Comprehensive Profile of Brain Enzymes that Hydrolyze the Endocannabinoid 2-Arachidonoylglycerol

Jacqueline L. Blankman, Gabriel M. Simon, Benjamin F. Cravatt · Chemistry & Biology · 2007 · 1.2K citations · Full text

, , +13

Prevalence of Hearing Loss in Older Adults in Beaver Dam, Wisconsin: The Epidemiology of Hearing Loss Study

K. J. Cruickshanks, Terry L. Wiley, T S Tweed et al. · American Journal of Epidemiology · 1998 · 1.1K citations

, , +17

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

, , +4

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 339 citations · Full text

, , +17

Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration

Rando Allikmets · The American Journal of Human Genetics · 2000 · 300 citations · Full text

, , +10