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Anthony T Moore

Showing results (131-140 of 277) with videos related to

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Molecular Vision|January 21, 2010
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humansRobert H Henderson, Zheng Li, Mai M Abd El Aziz, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 28, 2014
The extended clinical phenotype of dome-shaped maculaMarie-Hélène Errera, Michel Michaelides, Pearse A Keane, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
PAX6, brain structure and function in human adults: advanced MRI in aniridiaMahinda Yogarajah, Mar Matarin, Christian Vollmar, et al.
Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
American Journal of Human Genetics|November 3, 2009
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng Li, Panagiotis I Sergouniotis, Michel Michaelides, et al.
The British Journal of Ophthalmology|August 26, 2011
Age-related macular degeneration: the importance of family history as a risk factorHumma Shahid, Jane C Khan, Valentina Cipriani, et al.
Ophthalmology|January 10, 2018
Early Patterns of Macular Degeneration in ABCA4-Associated RetinopathyKamron N Khan, Melissa Kasilian, Omar A R Mahroo, et al.
The British Journal of Ophthalmology|December 17, 2011
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2Mala Subash, Tryfonas Rotsos, Genevieve A Wright, et al.
Journal of Medical Genetics|August 8, 2013
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing lossAllan J Richards, Gregory S Fincham, Annie McNinch, et al.
Clinical Genetics|August 18, 2020
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous populationFarrah Islam, Stephanie Htun, Li-Wen Lai, et al.
Pageof 28

Showing results (131-140 of 277) with videos related to

Sort By:
Pageof 28
Molecular Vision|January 21, 2010
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humansRobert H Henderson, Zheng Li, Mai M Abd El Aziz, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 28, 2014
The extended clinical phenotype of dome-shaped maculaMarie-Hélène Errera, Michel Michaelides, Pearse A Keane, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
PAX6, brain structure and function in human adults: advanced MRI in aniridiaMahinda Yogarajah, Mar Matarin, Christian Vollmar, et al.
Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
American Journal of Human Genetics|November 3, 2009
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng Li, Panagiotis I Sergouniotis, Michel Michaelides, et al.
The British Journal of Ophthalmology|August 26, 2011
Age-related macular degeneration: the importance of family history as a risk factorHumma Shahid, Jane C Khan, Valentina Cipriani, et al.
Ophthalmology|January 10, 2018
Early Patterns of Macular Degeneration in ABCA4-Associated RetinopathyKamron N Khan, Melissa Kasilian, Omar A R Mahroo, et al.
The British Journal of Ophthalmology|December 17, 2011
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2Mala Subash, Tryfonas Rotsos, Genevieve A Wright, et al.
Journal of Medical Genetics|August 8, 2013
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing lossAllan J Richards, Gregory S Fincham, Annie McNinch, et al.
Clinical Genetics|August 18, 2020
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous populationFarrah Islam, Stephanie Htun, Li-Wen Lai, et al.
Pageof 28