5 results on '"Patel, N. A."'
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2. Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome
3. Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
4. Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
5. A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.
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