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American Journal of Human Genetics, ISSN 0002-9297, 04/2017, Volume 100, Issue 4, p. 650
  Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ~35%-40% of... 
Brain | Genes | Learning disabilities | Mutation | Deoxyribonucleic acid--DNA | Apoptosis
Journal Article
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 2014, Volume 158, p. A8098
Until recently, the cause of intellectual disability remained unknown in at least 50% of affected people. The various causes require diverse healthcare needs.... 
Exome - genetics | Genomics | Humans | Intellectual Disability - diagnosis | Chromosome Aberrations | Molecular Sequence Data | DNA Copy Number Variations - genetics | High-Throughput Nucleotide Sequencing | Genetic Testing - methods | Intellectual Disability - genetics
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
BackgroundMicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as... 
MESSENGER-RNAS | PROTEIN | MENTAL-RETARDATION | RETT-SYNDROME | GENE | ADULT-MOUSE FOREBRAIN | GENETICS & HEREDITY | TARGETS | LYMPHOBLASTOID CELL-LINES | MICRORNA EXPRESSION | MAMMALIAN-CELLS | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation
Journal Article
Nederlands tijdschrift voor geneeskunde, 2014, Volume 158, p. A8098
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2012, Volume 91, Issue 1, pp. 73 - 82
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2012, Volume 91, Issue 1, p. 73
Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine.... 
Proteins | Genotype & phenotype | Chromatin | Genes | Epigenetics | Mutation | Developmental disabilities
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2017, Volume 13, Issue 10, p. e1006864
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism... 
METHYLATION | MEMORY | MOLECULAR CONVERGENCE | GENETICS & HEREDITY | GENE-EXPRESSION | COMPASS FAMILY | DEVELOPMENTAL DELAY | COURTSHIP | DROSOPHILA | NUCLEAR RECEPTOR | DELETION | Cytoskeletal Proteins - genetics | Humans | Male | Craniofacial Abnormalities - physiopathology | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Neuronal Plasticity - genetics | Adult | Female | Child | Craniofacial Abnormalities - genetics | Chromosome Deletion | Autism Spectrum Disorder - genetics | Promoter Regions, Genetic | Histone-Lysine N-Methyltransferase - genetics | Gene Expression Regulation | Binding Sites - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Haploinsufficiency | Intellectual Disability - physiopathology | Animals | Histones - genetics | Adolescent | Heart Defects, Congenital - physiopathology | Drosophila Proteins - genetics | Mutation | Autism Spectrum Disorder - physiopathology | Physiological aspects | Histones | Methyltransferases | Mental retardation | Pervasive developmental disorders | Neurosciences | Transcription | Laboratories | Funding | Intellectual disabilities | Memory | Genes | Genomics | Disorders | Nervous system | Convergence | Euchromatin | Histone methyltransferase | Genetics | Life sciences | Bioinformatics | Protein families | Supervision | Medical research | Head | Developmental biology | Drosophila | Autism | Brain research | Plasticity (synaptic) | Cognition & reasoning | Insects | Short term memory | Binding sites
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 330 - 337
Journal Article