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B H Weber

Showing results (51-60 of 91) with videos related to

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Journal of Medical Genetics|March 1, 1996
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophyU Felbor, H Stöhr, T Amann, et al.
Human Molecular Genetics|August 13, 1998
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)A Marquardt, H Stöhr, L A Passmore, et al.
Investigative Ophthalmology & Visual Science|February 27, 2001
Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cellsL L Molday, D Hicks, C G Sauer, et al.
American Journal of Human Genetics|January 1, 1997
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritanceU Felbor, E A Suvanto, H R Forsius, et al.
Human Genetics|March 7, 1998
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's diseaseI Nasonkin, M Illing, M R Koehler, et al.
Genomics|August 7, 1998
Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genesR Warneke-Wittstock, A Marquardt, A Gehrig, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|December 24, 1997
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutationU Felbor, C Benkwitz, M L Klein, et al.
American Journal of Ophthalmology|January 24, 1998
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German familyD Pauleikhoff, C G Sauer, C R Müller, et al.
Klinische Monatsblatter Fur Augenheilkunde|September 17, 2009
[Evidence-based diagnostic approach to inherited retinal dystrophies 2009]U Kellner, S Kellner, A B Renner, et al.
Ophthalmic Genetics|March 23, 2001
EFEMP1 is not associated with sporadic early onset drusenC G Sauer, K White, U Kellner, et al.
Pageof 10

Showing results (51-60 of 91) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|March 1, 1996
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophyU Felbor, H Stöhr, T Amann, et al.
Human Molecular Genetics|August 13, 1998
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)A Marquardt, H Stöhr, L A Passmore, et al.
Investigative Ophthalmology & Visual Science|February 27, 2001
Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cellsL L Molday, D Hicks, C G Sauer, et al.
American Journal of Human Genetics|January 1, 1997
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritanceU Felbor, E A Suvanto, H R Forsius, et al.
Human Genetics|March 7, 1998
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's diseaseI Nasonkin, M Illing, M R Koehler, et al.
Genomics|August 7, 1998
Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genesR Warneke-Wittstock, A Marquardt, A Gehrig, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|December 24, 1997
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutationU Felbor, C Benkwitz, M L Klein, et al.
American Journal of Ophthalmology|January 24, 1998
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German familyD Pauleikhoff, C G Sauer, C R Müller, et al.
Klinische Monatsblatter Fur Augenheilkunde|September 17, 2009
[Evidence-based diagnostic approach to inherited retinal dystrophies 2009]U Kellner, S Kellner, A B Renner, et al.
Ophthalmic Genetics|March 23, 2001
EFEMP1 is not associated with sporadic early onset drusenC G Sauer, K White, U Kellner, et al.
Pageof 10