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Reproductive Toxicology, ISSN 0890-6238, 09/2018, Volume 80, pp. 11 - 12
Journal Article
Annals of Internal Medicine, ISSN 0003-4819, 02/2019, Volume 170, Issue 3, pp. 211 - 213
Abetalipoproteinemia is a rare, autosomal recessive disorder that requires mutations in both alleles of the gene for microsomal triglyceride transfer protein... 
MEDICINE, GENERAL & INTERNAL | Proteins | Triglycerides | Genetic disorders | Mutation | Medical diagnosis | Oils & fats | Genetics | Digestive system
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2018, Volume 26, Issue 8, pp. 1234 - 1237
Journal Article
Brain Pathology, ISSN 1015-6305, 11/2018, Volume 28, Issue 6, pp. 822 - 831
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 03/2019, Volume 199, pp. 58 - 70
To delineate the natural history of visual parameters over time in individuals with biallelic mutation–associated inherited retinal dystrophy (IRD); describe... 
OPHTHALMOLOGY | Retinal degeneration | Genetic aspects | Medical screening | Genetic screening
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 02/2018, Volume 96, Issue 1, pp. e87 - e91
PurposeTo identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana. MethodsDetailed ophthalmological examination... 
phenotype | KERA | novel mutation | cornea plana | KERATOCAN | DECOMPENSATION | SEQUENCE | DISEASE | OPHTHALMOLOGY | PROTEIN FUNCTION | Pathogenicity | Pathogens | Cornea | Missense mutation | Thinning | Microscopy | Eye (anatomy) | Mutation | Patients | Endothelial cells | Heterozygosity | Index Medicus
Journal Article
Journal Article
Molecular Vision, ISSN 1090-0535, 10/2017, Volume 23, pp. 695 - 706
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4384 - 4391
To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and... 
Visual development | Retina | Low vision | Genetic diseases | Retinal dystrophy | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1188 - 1196
Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1 ,... 
Leber congenital amaurosis | 5′UTR variants | NMNAT1 | LCA9 | Alu‐mediated deletions | Alu-mediated deletions | AMAUROSIS | 5'-UTR | 5 ' UTR variants | DISEASE | GENETICS & HEREDITY | EXPRESSION | TOOL | Life Sciences
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Journal Article