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NATURE COMMUNICATIONS, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 1 - 11
Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene... 
CHROMOSOME-21 | MULTIDISCIPLINARY SCIENCES | ALLELIC EXPRESSION | DOWN-SYNDROME | MOUSE MODEL | REGION | Gene dosage | Trisomy | Transcription | Copy number | Genes | Gene regulation | Phenotypic variations | Fibroblasts | Aneuploidy | Stochasticity | Gene expression | Dosage
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2018, Volume 63, Issue 7, pp. 847 - 850
Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups.... 
DOUBLECORTIN | PROTEIN | GENE | GENETICS & HEREDITY | KIAA2022 | MUTATIONS | EXPRESSION | BRAIN | Autism | Genetic counseling | Intellectual disabilities | Epilepsy
Journal Article
The Journal of Pathology, ISSN 0022-3417, 11/2017, Volume 243, Issue 3, pp. 331 - 341
Journal Article
American Journal of Medicine, The, ISSN 0002-9343, 2016, Volume 129, Issue 8, pp. e137 - e138
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.amjmed.2016.04.010 Byline: Periklis Makrythanasis, Charles Behr,... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | SEIZURES | MUTATIONS | Airway Obstruction - etiology | Epilepsy, Frontal Lobe - complications | Adult | Male | Sleep | Humans | Medical colleges | Hospitals | France | Epilepsy
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1203 - 1210
Journal Article
PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 5, p. e1004340
Journal Article