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Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2019, Volume 56, Issue 8, pp. 536 - 542
Background Next generation sequencing (NGS) generates a large amount of genetic data that can be used to better characterise disease-causing variants. Our aim... 
inherited retinal diseases | minor allele frequency | pathogenic variant | autosomal dominant | CARBONIC-ANHYDRASE-IV | DIAGNOSIS | R14W | PREVALENCE | DEGENERATION | FAMILIES | MUTATION | GENETICS & HEREDITY | FSCN2 | RETINITIS-PIGMENTOSA | Databases | Next-generation sequencing | Disease | Gene frequency | Genes | Alleles | Retina | Genomes | Heredity | Mutation | Data bases | Index Medicus
Journal Article
Journal of Medicinal Chemistry, ISSN 0022-2623, 11/2014, Volume 57, Issue 22, pp. 9435 - 9446
Journal Article
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 07/2019, Volume 120, Issue 7, pp. 10884 - 10892
Journal Article
European Journal of Medicinal Chemistry, ISSN 0223-5234, 02/2017, Volume 127, pp. 521 - 530
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 1, pp. e16032 - e16032
Background: Ideally, disease modifying therapies for Alzheimer disease (AD) will be applied during the 'preclinical' stage (pathology present with cognition... 
CARBONIC-ANHYDRASE-IV | EPITHELIUM-DERIVED FACTOR | CELL-ADHESION MOLECULE | SECRETORY GRANULE MEMBRANE | MULTIDISCIPLINARY SCIENCES | CEREBRAL-ARTERY OCCLUSION | IMMUNODEFICIENCY-VIRUS ENCEPHALITIS | AMYLOID-BETA-PROTEIN | MILD COGNITIVE IMPAIRMENT | FRONTOTEMPORAL LOBAR DEGENERATION | GENOME-WIDE ASSOCIATION | Severity of Illness Index | Enzyme-Linked Immunosorbent Assay | Humans | Middle Aged | Dementia - diagnosis | Electrophoresis, Gel, Two-Dimensional | Male | Alzheimer Disease - cerebrospinal fluid | Case-Control Studies | Disease Progression | Alzheimer Disease - diagnosis | Tandem Mass Spectrometry | Aged, 80 and over | Female | ROC Curve | Aged | Biomarkers - cerebrospinal fluid | Cerebrospinal Fluid Proteins - analysis | Early Diagnosis | Enzymes | Advertising executives | Medical research | Care and treatment | Medicine, Experimental | Biological markers | Alzheimer's disease | Enzyme-linked immunosorbent assay | Cystatin | Multiple sclerosis | Physicians | Cognitive ability | Nervous system | Cognition | Cerebrospinal fluid | Cell adhesion & migration | Proteins | Confidence intervals | Immunology | Neurodegeneration | Cystatin C | Dementia disorders | Bioindicators | Trends | Neurological disorders | Statistical analysis | Neurodegenerative diseases | Gel electrophoresis | Transthyretin | Mass spectroscopy | Regression analysis | Behavioral sciences | Metabolism | Medicine | Pathology | Neurology | Brain research | Tau protein | Proteomics | Biomarkers | Sampling methods | Diagnostic systems | Alzheimers disease | Mass spectrometry | Immunoassays | Dementia | Index Medicus
Journal Article