An Analysis of Allelic Variation in the ABCA4 Gene
Webster, Andrew R, Heon, Elise, Lotery, Andrew J, Vandenburgh, Kimberlie, Casavant, Thomas L, Oh, Kean T, Beck, Gretel, Fishman, Gerald A, Lam, Byron L, Levin, Alex, Heckenlively, John R, Jacobson, Samuel G, Weleber, Richard G, Sheffield, Val C, Stone, Edwin M
Published in Investigative ophthalmology & visual science (01.05.2001)
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Published in Investigative ophthalmology & visual science (01.05.2001)
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Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
Brown, D M, Vandenburgh, K, Kimura, A E, Weingeist, T A, Sheffield, V C, Stone, E M
Published in Human molecular genetics (01.01.1995)
Published in Human molecular genetics (01.01.1995)
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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Vandenburgh, Kimberlie, Mackey, David A, Stone, Edwin M, Héon, Elise, Piguet, Bertrand, Silvestri, Giuliana, Bird, Alan C, Lotery, Andrew J, Guymer, Robyn H, Nishimura, Darryl, Schorderet, Daniel F, Munier, Francis L, Hageman, Gregory S, Sheffield, Val C, Cousin, Pascal, Swiderski, Ruth E
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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Journal Article
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
Jacobson, S.C, Cideciyan, A.v, Regunath, G, Rodriguez, F.J, Vandenburgh, K, Sheffield, V.C, Stone, E.M
Published in Nature genetics (01.09.1995)
Published in Nature genetics (01.09.1995)
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Journal Article
Sequence, chemical, and structural variation of small interfering RNAs and short hairpin RNAs and the effect on mammalian gene silencing
Harborth, Jens, Elbashir, Sayda M, Vandenburgh, Kim, Manninga, Heiko, Scaringe, Stephen A, Weber, Klaus, Tuschl, Thomas
Published in Antisense & nucleic acid drug development (01.04.2003)
Published in Antisense & nucleic acid drug development (01.04.2003)
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Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa
Fishman, Gerald A., Stone, Edwin, Gilbert, Leonardo D., Vandenburgh, Kimberlie, Sheffield, Val C., Heckenlively, John R.
Published in Ophthalmology (Rochester, Minn.) (01.08.1994)
Published in Ophthalmology (Rochester, Minn.) (01.08.1994)
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Analysis of mammalian gene function using small interfering RNAs
Martinez, Javier, Patkaniowska, Agnieszka, Elbashir, Sayda M., Harborth, Jens, Hossbach, Markus, Urlaub, Henning, Meyer, Jutta, Weber, Klaus, Vandenburgh, Kim, Manninga, Heiko, Scaringe, Stephen A., Luehrmann, Reinhard, Tuschl, Thomas
Published in Nucleic Acids Symposium Series (01.09.2003)
Published in Nucleic Acids Symposium Series (01.09.2003)
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Journal Article
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene
Joos, K M, Kimura, A E, Vandenburgh, K, Bartley, J A, Stone, E M
Published in Archives of ophthalmology (1960) (01.12.1994)
Published in Archives of ophthalmology (1960) (01.12.1994)
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