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Archives of Pediatrics & Adolescent Medicine
|
May 9, 2007
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
Doris-Eva Bamiou, Samantha L Free, Sanjay M Sisodiya, et al.
American Journal of Human Genetics
|
July 14, 2021
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations
Valentina Cipriani, Anna Tierney, John R Griffiths, et al.
Human Molecular Genetics
|
April 2, 2014
Abnormal retinal development associated with FRMD7 mutations
Mervyn G Thomas, Moira Crosier, Susan Lindsay, et al.
Investigative Ophthalmology & Visual Science
|
February 12, 2011
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations
Donna S Mackay, Louise A Ocaka, Arundhati Dev Borman, et al.
Investigative Ophthalmology & Visual Science
|
February 26, 2010
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract
Jurian Zuercher, John Neidhardt, Istvan Magyar, et al.
The British Journal of Ophthalmology
|
March 19, 2017
Childhood-onset Leber hereditary optic neuropathy
Anna Majander, Richard Bowman, Joanna Poulton, et al.
Investigative Ophthalmology & Visual Science
|
November 23, 2013
A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Rajarshi Mukherjee, et al.
Ophthalmology
|
October 15, 2014
Clinical and molecular characteristics of childhood-onset Stargardt disease
Kaoru Fujinami, Jana Zernant, Ravinder K Chana, et al.
Ophthalmology
|
June 18, 2013
The clinical effect of homozygous ABCA4 alleles in 18 patients
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Retina (Philadelphia, Pa.)
|
April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss
Zubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
Page
of 28
Search research articles
Search
Showing results (141-150 of 277) with videos related to
Sort By:
Page
of 28
Archives of Pediatrics & Adolescent Medicine
|
May 9, 2007
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
Doris-Eva Bamiou, Samantha L Free, Sanjay M Sisodiya, et al.
American Journal of Human Genetics
|
July 14, 2021
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations
Valentina Cipriani, Anna Tierney, John R Griffiths, et al.
Human Molecular Genetics
|
April 2, 2014
Abnormal retinal development associated with FRMD7 mutations
Mervyn G Thomas, Moira Crosier, Susan Lindsay, et al.
Investigative Ophthalmology & Visual Science
|
February 12, 2011
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations
Donna S Mackay, Louise A Ocaka, Arundhati Dev Borman, et al.
Investigative Ophthalmology & Visual Science
|
February 26, 2010
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract
Jurian Zuercher, John Neidhardt, Istvan Magyar, et al.
The British Journal of Ophthalmology
|
March 19, 2017
Childhood-onset Leber hereditary optic neuropathy
Anna Majander, Richard Bowman, Joanna Poulton, et al.
Investigative Ophthalmology & Visual Science
|
November 23, 2013
A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Rajarshi Mukherjee, et al.
Ophthalmology
|
October 15, 2014
Clinical and molecular characteristics of childhood-onset Stargardt disease
Kaoru Fujinami, Jana Zernant, Ravinder K Chana, et al.
Ophthalmology
|
June 18, 2013
The clinical effect of homozygous ABCA4 alleles in 18 patients
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Retina (Philadelphia, Pa.)
|
April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss
Zubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
Page
of 28