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Showing results (141-150 of 148) with videos related to

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Journal of Medical Genetics|November 17, 2007
A novel connexin50 mutation associated with congenital nuclear pulverulent cataractsA Arora, P J Minogue, X Liu, et al.
Investigative Ophthalmology & Visual Science|November 30, 2000
RP1 protein truncating mutations predominate at the RP1 adRP locusA Payne, E Vithana, S Khaliq, et al.
Journal of Medical Genetics|July 10, 2008
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicingR Burgess, R E MacLaren, A E Davidson, et al.
Nature Genetics|June 30, 2001
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humansS M Sisodiya, S L Free, K A Williamson, et al.
Journal of Medical Genetics|January 7, 2006
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataractA Arora, P J Minogue, X Liu, et al.
Molecular Cell|September 8, 2001
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)E N Vithana, L Abu-Safieh, M J Allen, et al.
Ophthalmology|January 27, 2000
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclaseK Gregory-Evans, R E Kelsell, C Y Gregory-Evans, et al.
Genomics|April 1, 1997
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21E A Bruford, R Riise, P W Teague, et al.
Pageof 15

Showing results (141-150 of 148) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 148 results.
Journal of Medical Genetics|November 17, 2007
A novel connexin50 mutation associated with congenital nuclear pulverulent cataractsA Arora, P J Minogue, X Liu, et al.
Investigative Ophthalmology & Visual Science|November 30, 2000
RP1 protein truncating mutations predominate at the RP1 adRP locusA Payne, E Vithana, S Khaliq, et al.
Journal of Medical Genetics|July 10, 2008
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicingR Burgess, R E MacLaren, A E Davidson, et al.
Nature Genetics|June 30, 2001
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humansS M Sisodiya, S L Free, K A Williamson, et al.
Journal of Medical Genetics|January 7, 2006
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataractA Arora, P J Minogue, X Liu, et al.
Molecular Cell|September 8, 2001
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)E N Vithana, L Abu-Safieh, M J Allen, et al.
Ophthalmology|January 27, 2000
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclaseK Gregory-Evans, R E Kelsell, C Y Gregory-Evans, et al.
Genomics|April 1, 1997
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21E A Bruford, R Riise, P W Teague, et al.
Pageof 15