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Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 9, pp. 1055 - 1063
Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or... 
pediatric neurology | Prospective Clinical Utility Study | whole-exome sequencing | diagnostic yield | health-care resource use | DIAGNOSIS | RARE DISEASES | VARIANTS | CONSENSUS | DISORDERS | INTELLECTUAL DISABILITY | INCIDENTAL FINDINGS | COST | GENETICS & HEREDITY | MUTATIONS | PARTICIPANTS | Neurology | Pediatrics | Original
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 330 - 337
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 523 - 532
Journal Article
Neuron, ISSN 0896-6273, 07/2016, Volume 91, Issue 2, pp. 341 - 355
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