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E M Stone

Showing results (91-100 of 174) with videos related to

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Journal of Clinical Neuro-Ophthalmology|March 1, 1992
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutationE M Stone, N J Newman, N R Miller, et al.
Pharmacogenetics|January 26, 1999
Determination of the enzymes responsible for activation of the heterocyclic amine 2-amino-3-methylimidazo[4,5-f]quinoline in the human breastJ A Williams, E M Stone, B C Millar, et al.
American Journal of Human Genetics|May 23, 1998
A gene for familial juvenile polyposis maps to chromosome 18q21.1J R Howe, J C Ringold, R W Summers, et al.
Investigative Ophthalmology & Visual Science|July 1, 1994
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor functionC M Kemp, S G Jacobson, A V Cideciyan, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1992
Procollagen II gene mutation in Stickler syndromeD M Brown, B E Nichols, T A Weingeist, et al.
Eye (London, England)|January 20, 2018
A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigreeM J Schnieders, W Goar, M Griess, et al.
Nature Genetics|September 1, 1995
Night blindness in Sorsby's fundus dystrophy reversed by vitamin AS G Jacobson, A V Cideciyan, G Regunath, et al.
Journal of Medical Genetics|January 15, 2000
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from JordanH El-Shanti, M Al-Salem, M El-Najjar, et al.
Nature Genetics|April 1, 1996
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationV C Sheffield, Z Kraiem, J C Beck, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|December 22, 1999
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomalyM L Mellott, J Brown, J H Fingert, et al.
Pageof 18

Showing results (91-100 of 174) with videos related to

Sort By:
Pageof 18
Journal of Clinical Neuro-Ophthalmology|March 1, 1992
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutationE M Stone, N J Newman, N R Miller, et al.
Pharmacogenetics|January 26, 1999
Determination of the enzymes responsible for activation of the heterocyclic amine 2-amino-3-methylimidazo[4,5-f]quinoline in the human breastJ A Williams, E M Stone, B C Millar, et al.
American Journal of Human Genetics|May 23, 1998
A gene for familial juvenile polyposis maps to chromosome 18q21.1J R Howe, J C Ringold, R W Summers, et al.
Investigative Ophthalmology & Visual Science|July 1, 1994
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor functionC M Kemp, S G Jacobson, A V Cideciyan, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1992
Procollagen II gene mutation in Stickler syndromeD M Brown, B E Nichols, T A Weingeist, et al.
Eye (London, England)|January 20, 2018
A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigreeM J Schnieders, W Goar, M Griess, et al.
Nature Genetics|September 1, 1995
Night blindness in Sorsby's fundus dystrophy reversed by vitamin AS G Jacobson, A V Cideciyan, G Regunath, et al.
Journal of Medical Genetics|January 15, 2000
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from JordanH El-Shanti, M Al-Salem, M El-Najjar, et al.
Nature Genetics|April 1, 1996
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationV C Sheffield, Z Kraiem, J C Beck, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|December 22, 1999
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomalyM L Mellott, J Brown, J H Fingert, et al.
Pageof 18