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Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. Methods... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 141 - 149
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, pp. e0169189 - e0169189
A-type lamins, the intermediate filament proteins participating in nuclear structure and function, are encoded by LMNA. LMNA mutations can lead to... 
ORGANIZATION | LAMINOPATHIES | OXIDATIVE STRESS | A-TYPE LAMINS | PARTIAL LIPODYSTROPHY | HUTCHINSON-GILFORD-PROGERIA | MULTIDISCIPLINARY SCIENCES | PRELAMIN-A | A/C GENE | LMNA-MUTATIONS | FIBROBLASTS | Skin - metabolism | Humans | Muscular Dystrophies - genetics | DNA-Binding Proteins - metabolism | Myoblasts - metabolism | Cell Nucleus - metabolism | Cell Nucleus - pathology | Cellular Senescence | Female | Membrane Proteins - metabolism | Acetylation | Skin - pathology | Fibroblasts - metabolism | Gene Expression | Muscular Dystrophies - metabolism | Membrane Proteins - genetics | Lipodystrophy - metabolism | Lamin Type A - metabolism | Muscular Dystrophies - complications | DNA-Binding Proteins - genetics | Fibroblasts - pathology | Muscular Dystrophies - pathology | Myoblasts - pathology | Lipodystrophy - complications | Lipodystrophy - genetics | Animals | Histones - genetics | Adolescent | Lamin Type A - genetics | Lipodystrophy - pathology | Mice | Histones - metabolism | Mutation | Primary Cell Culture | Gene mutations | Analysis | Genetic aspects | Research | Intermediate filament proteins | Muscular dystrophy | Risk factors | Drugs | Cell culture | Chromatin | Senescence | Honeycomb construction | Cardiomyopathy | Cytotoxicity | Genomes | Lamins | Nuclei | Proteins | Signal transduction | Filaments | Coding | Actin | Progeria | Fibroblasts | Aging | Deoxyribonucleic acid--DNA | Nuclear structure | Abnormalities | Gene expression | Myoblasts | Membrane proteins | Microtubules | Cytoskeleton | Lipodystrophy | Skin | Nuclei (cytology) | Dystrophy | Structure-function relationships | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 113 - 120
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1144 - 1149
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 207 - 207
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 25 - 27
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 1, pp. 61 - 70
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 71 - 78
Journal Article