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Nature Medicine, ISSN 1078-8956, 02/2019, Volume 25, Issue 2, pp. 225 - 228
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
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2019, Volume 104, Issue 7, pp. 2925 - 2930
Context: The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX... 
INACTIVATION | EYE | ANOMALIES | ENDOCRINOLOGY & METABOLISM | PATIENT | OTX2 | HOMEOBOX GENE | EXPRESSION | BRAIN
Journal Article
Journal Article
Journal Article
Journal of Clinical Pathology, ISSN 0022-2593, 02/1995, Volume 48, Issue 2, p. 98
Background There are many reasons why concussion in children needs to be considered different from adults. The Zurich (2008) recommendations on the management... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2015, Volume 10, Issue 1, pp. 52 - 52
Journal Article