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Ophthalmic Genetics
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February 6, 2016
Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy
Michelle Grunin, Liran Tiosano, Tareq Jaouni, et al.
Ophthalmology
|
June 4, 2013
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype
Lina Zelinger, Bernd Wissinger, Dalia Eli, et al.
Molecular Vision
|
March 13, 2008
A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
Dikla Bandah, Ada Rosenmann, Anat Blumenfeld, et al.
Ophthalmology Science
|
November 24, 2022
Retinal Structure and Function in a Knock-in Mouse Model for the <i>FAM161A-</i>p.Arg523∗ Human Nonsense Pathogenic Variant
Chen Matsevich, Prakadeeswari Gopalakrishnan, Alexey Obolensky, et al.
Investigative Ophthalmology & Visual Science
|
May 26, 2007
A complex expression pattern of Pax6 in the pigeon retina
Dikla Bandah, Tomer Swissa, Gil Ben-Shlomo, et al.
Ophthalmic Genetics
|
February 18, 2015
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family
Claudia Yahalom, Dror Sharon, Eli Dalia, et al.
Investigative Ophthalmology & Visual Science
|
April 7, 2011
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode
Hanna Bitner, Liliana Mizrahi-Meissonnier, Gabriel Griefner, et al.
Molecular Vision
|
November 7, 2022
Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the <i>PRPF31</i> gene
Tahleel Ali-Nasser, Shiri Zayit-Soudry, Eyal Banin, et al.
Investigative Ophthalmology & Visual Science
|
April 9, 2010
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1
Patrik Schatz, Hanna Bitner, Birgit Sander, et al.
Journal of Medical Genetics
|
October 5, 2023
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
Tamar Hayman, Talya Millo, Karen Hendler, et al.
Page
of 15
Search research articles
Search
Showing results (21-30 of 150) with videos related to
Sort By:
Page
of 15
Ophthalmic Genetics
|
February 6, 2016
Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy
Michelle Grunin, Liran Tiosano, Tareq Jaouni, et al.
Ophthalmology
|
June 4, 2013
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype
Lina Zelinger, Bernd Wissinger, Dalia Eli, et al.
Molecular Vision
|
March 13, 2008
A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
Dikla Bandah, Ada Rosenmann, Anat Blumenfeld, et al.
Ophthalmology Science
|
November 24, 2022
Retinal Structure and Function in a Knock-in Mouse Model for the <i>FAM161A-</i>p.Arg523∗ Human Nonsense Pathogenic Variant
Chen Matsevich, Prakadeeswari Gopalakrishnan, Alexey Obolensky, et al.
Investigative Ophthalmology & Visual Science
|
May 26, 2007
A complex expression pattern of Pax6 in the pigeon retina
Dikla Bandah, Tomer Swissa, Gil Ben-Shlomo, et al.
Ophthalmic Genetics
|
February 18, 2015
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family
Claudia Yahalom, Dror Sharon, Eli Dalia, et al.
Investigative Ophthalmology & Visual Science
|
April 7, 2011
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode
Hanna Bitner, Liliana Mizrahi-Meissonnier, Gabriel Griefner, et al.
Molecular Vision
|
November 7, 2022
Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the <i>PRPF31</i> gene
Tahleel Ali-Nasser, Shiri Zayit-Soudry, Eyal Banin, et al.
Investigative Ophthalmology & Visual Science
|
April 9, 2010
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1
Patrik Schatz, Hanna Bitner, Birgit Sander, et al.
Journal of Medical Genetics
|
October 5, 2023
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
Tamar Hayman, Talya Millo, Karen Hendler, et al.
Page
of 15