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Journal of Alzheimer's Disease, ISSN 1387-2877, 01/2019, Volume 67, Issue 1, pp. 231 - 242
Background: Alzheimer’s disease (AD) is a chronic neurological disorder associated with mental decline and dementia. Several studies focused on investigating... 
Genes | Population genetics | Patients | Amyloid precursor protein | Gene sequencing | Proteins | Gene frequency | Apolipoprotein E | Coding | Alleles | Dementia disorders | Mutation | Protein structure | Alzheimer's disease | Structural analysis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 137, Issue 6, pp. 1780 - 1787
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 2019, Volume 67, Issue 1, pp. 231 - 242
Background: Alzheimer's disease (AD) is a chronic neurological disorder associated with mental decline and dementia. Several studies focused on investigating... 
familial | sporadic | gene | novel variants | Alzheimer's disease | COMMON VARIANTS | RISK | AMYLOID PRECURSOR PROTEIN | NEUROSCIENCES | APOLIPOPROTEIN-E | TYPE-4 ALLELE | IDENTIFIES VARIANTS | EARLY-ONSET | SORL1 VARIANTS | MUTATIONS | GENOME-WIDE ASSOCIATION
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities | Index Medicus
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 9
Genetic studies of the familial forms of Parkinson’s disease (PD) have identified a number of causative genes with an established role in its pathogenesis.... 
Alternative splicing | Animal models | Phenotypes | Parkinson's disease | Next-generation sequencing | Neurodegenerative diseases | Copy number | Movement disorders
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, p. 558
Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and... 
Genotype & phenotype | Genetic disorders | Crystals | Mutation
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2014, Volume 111, Issue 50, pp. 17953 - 17958
Journal Article