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Journal Article
PLoS genetics, ISSN 1553-7390, 11/2018, Volume 14, Issue 11, p. e1007780
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 1, pp. 45 - 54
Journal Article
Human Mutation, ISSN 1059-7794, 02/2017, Volume 38, Issue 2, pp. 180 - 192
Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic... 
balanced chromosomal aberration | whole‐genome sequencing | reciprocal translocation | nonhomologous end joining | microhomology | replication‐based repair mechanisms | replication-based repair mechanisms | whole-genome sequencing | COMPLEX | DISORDERS | REARRANGEMENTS | BREAKPOINTS | DELETION | INTELLECTUAL DISABILITY | COPY-NUMBER | ARRAY-CGH | DISEASE | GENETICS & HEREDITY | BREAK-INDUCED REPLICATION | Translocation, Genetic | Genetic Association Studies | Humans | Genotype | Homologous Recombination | In Situ Hybridization, Fluorescence | Male | Chromosome Mapping | DNA Copy Number Variations | Whole Genome Sequencing | Phenotype | Comparative Genomic Hybridization | Base Sequence | Female | Genomics - methods | Chromosome Breakage | Karyotype | Tourette's syndrome | Analysis | Genes | Genomics | Genetic research | Genetic aspects | Genomes | Nucleotide sequencing | DNA sequencing | whole genome sequencing | non-homologous end joining | Medical Biotechnology | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 12, pp. 3069 - 3082
Journal Article
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2016, Volume 4, Issue 1, pp. 39 - 45
Rubinstein–Taybi syndrome ( RTS ) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces,... 
aybi syndrome | CREBBP | 300 | preeclampsia | delayed emergence after anesthesia | ubinstein | CBP | Rubinstein-Taybi syndrome | GENETICS & HEREDITY | PHENOTYPE | EP300 | GENETIC-HETEROGENEITY | Mutation
Journal Article
Acta paediatrica (Oslo, Norway : 1992), ISSN 1651-2227, 2015, Volume 104, Issue 6
Several studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study... 
Psykiatri | Psychiatry
Journal Article
Acta Paediatrica, ISSN 0803-5253, 2015, Volume 104, Issue 6, p. 610
AimSeveral studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the... 
Pediatrics | Social Sciences | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Psychology | Klinisk medicin | Autism spectrum disorder | Samhällsvetenskap | Clinical Medicine | Autism | Psykiatri | Chromosomal microarray | Psychiatry | Psykologi | Copy number variants
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 11/2013, Volume 210, Issue 12, pp. 2503 - 2513
Journal Article