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Meltzer Mr

National Institutes of Health

5

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68

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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

2011 Journal of Medical Genetics
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Molecular Modeling of Retinoschisin and Functional Analysis of Pathogenic Mutations From X-Linked Retinoschisis

2010 Investigative Ophthalmology & Visual Science
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Functional Impact of Missense Mutations in Low-Density-Lipoprotein Receptor-Related Protein 5 (LRP5) Associated With Familial Exudative Vitreoretinopathy (FEVR)

2010 Investigative Ophthalmology & Visual Science
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Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

2007 Retinal Cases & Brief Reports
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