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Browsing by Author Khanna, H.

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Full TextIssue DateTitleAuthor(s)
2010Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.Otto, E.A.; Hurd, T.W.; Airik, R., et al
2012Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRachel, R.A.; May-Simera, H.L.; Veleri, S., et al
2009A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.Khanna, H.; Davis, E.E.; Murga-Zamalloa, C.A., et al
2010Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.O'Toole, J.F.; Liu, Y.; Davis, E.E., et al
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