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Journal Article
Genomics, ISSN 0888-7543, 2018, Volume 111, Issue 5, p. 1108
Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is... 
Balanced reciprocal translocation | FISH | Whole genome sequencing | Nanopore sequencing technology | Seizures | Anopheles | Analysis | Cloning | Genes | Genomics | Animal genetic engineering | Genomes | Seizures (Medicine) | Nucleotide sequencing | DNA sequencing
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2013, Volume 83, Issue 2, pp. 169 - 174
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 | Index Medicus | 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
Journal Article
Heart Rhythm, ISSN 1547-5271, 02/2019, Volume 16, Issue 2, pp. 231 - 238
Journal Article
Reproductive BioMedicine Online, ISSN 1472-6483, 04/2019, Volume 38, pp. e36 - e36
Journal Article
Reproductive BioMedicine Online, ISSN 1472-6483, 05/2019, Volume 38, Issue 5, pp. 669 - 675
Research question: Can next-generation sequencing (NGS) based on copy number variation sequencing (CNV-Seq) identify normal/balanced embryos in balanced... 
Balanced reciprocal translocation | Preimplantation genetic testing | Frozen embryo transfer | Copy number variation sequencing | Next-generation sequencing | Gonadotrophin-releasing hormone | DIAGNOSIS | NUMBER | PGD | BLASTOCYST BIOPSY | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | TECHNOLOGY
Journal Article
Indian Journal of Human Genetics, ISSN 0971-6866, 2014, Volume 20, Issue 1, pp. 85 - 88
Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of... 
Balanced homologous chromosomal translocation | inheritance | uniparental disomy | Case studies | Care and treatment | Diagnosis | Translocation (Genetics) | Patient outcomes | Risk factors | Case Report
Journal Article
Psychiatry Research, ISSN 0165-1781, 2015, Volume 225, Issue 3, pp. 268 - 275
Journal Article