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Journal Article
Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 306 - 316
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 253 - 274
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an... 
MICRODELETION | AUTISM | DE-NOVO MUTATIONS | GENES | COMPLEXES | GENETICS & HEREDITY | AXON GUIDANCE | PROJECTION NEURONS | PATIENT | 2P15P16.1 | DELETION | Microcephaly - genetics | Transcription Factors - chemistry | Humans | Transcriptome | Chromatin Assembly and Disassembly - genetics | Male | Neurodevelopmental Disorders - genetics | Cerebral Cortex - metabolism | Mutation, Missense - genetics | Intellectual Disability - genetics | Social Behavior | Carrier Proteins - chemistry | Transcription, Genetic | Nuclear Proteins - genetics | Frameshift Mutation - genetics | Haploinsufficiency - genetics | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Cognition Disorders - genetics | Neurodevelopmental Disorders - physiopathology | Transcription Factors - genetics | Nuclear Proteins - chemistry | Neurodevelopmental Disorders - pathology | Syndrome | Transcription Factors - metabolism | Carrier Proteins - genetics | Hippocampus - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Intellectual Disability - psychology | Mice | Codon, Nonsense - genetics | Genetic aspects | Genetic transcription | Nucleotide sequencing | Mental retardation | Health aspects | Methods | DNA sequencing | Genotype & phenotype | Chromatin | Mutation | Cognition & reasoning | Intellectual disabilities | Neurological disorders | Index Medicus | Life Sciences | Human health and pathology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 847 - 855
Journal Article