Concepedia

Phenotypic expression of Bardet–Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

Kyle F. Cox, Natalie C. Kerr, Marina Kedrov, Darryl Nishimura, Barbara Jennings, Edwin M. Stone, Val C. Sheffield, Alessandro Iannaccone

Vision Research · 2012 · 50 citations · 58 references

DOI

Concepts

References

58

Enhanced Depth Imaging Spectral-Domain Optical Coherence Tomography

Richard F. Spaide, Hideki Koizumi, Maria C. Pozonni · American Journal of Ophthalmology · 2008 · 2.2K citations

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Bardet–Biedl syndrome

Elizabeth Forsythe, Philip L. Beales · European Journal of Human Genetics · 2012 · 744 citations · Full text

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

, , +17

The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome

Jane S. Green, P S Parfrey, J D Harnett et al. · New England Journal of Medicine · 1989 · 556 citations

, , +12

A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa

Archives of Ophthalmology · 1993 · 464 citations

, , +11