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M A Musarella

Showing results (31-40 of 43) with videos related to

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Nature Genetics|July 14, 1998
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
Genomics|November 1, 1989
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3M A Musarella, R G Weleber, W H Murphey, et al.
American Journal of Human Genetics|June 13, 1998
Evidence for genetic heterogeneity in X-linked congenital stationary night blindnessK M Boycott, W G Pearce, M A Musarella, et al.
Nature Genetics|May 1, 1993
Dystrophin expression in the human retina is required for normal function as defined by electroretinographyD A Pillers, D E Bulman, R G Weleber, et al.
Nature Genetics|September 6, 2000
Mutations in MKKS cause Bardet-Biedl syndromeA M Slavotinek, E M Stone, K Mykytyn, et al.
Ophthalmology|May 1, 1994
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophyD A Sigesmund, R G Weleber, D A Pillers, et al.
Human Mutation|January 1, 1997
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)R A Spritz, J Oh, K Fukai, et al.
American Journal of Human Genetics|December 18, 1997
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaM Buraczynska, W Wu, R Fujita, et al.
Genomics|October 15, 1996
Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3J Brown, K L Dry, A J Edgar, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 15, 2000
Mutation analysis of 3 genes in patients with Leber congenital amaurosisA J Lotery, P Namperumalsamy, S G Jacobson, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Nature Genetics|July 14, 1998
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindnessN T Bech-Hansen, M J Naylor, T A Maybaum, et al.
Genomics|November 1, 1989
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3M A Musarella, R G Weleber, W H Murphey, et al.
American Journal of Human Genetics|June 13, 1998
Evidence for genetic heterogeneity in X-linked congenital stationary night blindnessK M Boycott, W G Pearce, M A Musarella, et al.
Nature Genetics|May 1, 1993
Dystrophin expression in the human retina is required for normal function as defined by electroretinographyD A Pillers, D E Bulman, R G Weleber, et al.
Nature Genetics|September 6, 2000
Mutations in MKKS cause Bardet-Biedl syndromeA M Slavotinek, E M Stone, K Mykytyn, et al.
Ophthalmology|May 1, 1994
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophyD A Sigesmund, R G Weleber, D A Pillers, et al.
Human Mutation|January 1, 1997
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)R A Spritz, J Oh, K Fukai, et al.
American Journal of Human Genetics|December 18, 1997
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaM Buraczynska, W Wu, R Fujita, et al.
Genomics|October 15, 1996
Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3J Brown, K L Dry, A J Edgar, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|April 15, 2000
Mutation analysis of 3 genes in patients with Leber congenital amaurosisA J Lotery, P Namperumalsamy, S G Jacobson, et al.
Pageof 5