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Lancet, The, ISSN 0140-6736, 2013, Volume 382, Issue 9902, pp. 1424 - 1432
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2012, Volume 7, Issue 7, pp. e40090 - e40090
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 540 - 549
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0131883 - e0131883
Journal Article
BMC Musculoskeletal Disorders, ISSN 1471-2474, 01/2018, Volume 19, Issue 1, pp. 3 - 3
Background: Persisting fatigue has been reported to be a common complaint by individuals with connective tissue disorders, including Osteogenesis imperfecta... 
Osteogenesis imperfecta | Fatigue | Sleep disturbances | Quality of life | CHRONIC INSOMNIA | POPULATION | DIAGNOSIS | DAYTIME SLEEPINESS | APNEA | ASSOCIATIONS | ADULTS | RHEUMATOLOGY | CHILDREN | QUALITY-OF-LIFE | ORTHOPEDICS | EPIDEMIOLOGY | Sleep disorders | Research | Analysis | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2013, Volume 50, Issue 8, pp. 521 - 528
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
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e87292 - e87292
Vitamin D binding protein (DBP)/group-specific component (Gc), correlates positively with serum vitamin D metabolites, and phenotype influences serum... 
GROUP-SPECIFIC COMPONENT | MINERAL DENSITY | GENE | PLASMA-CONCENTRATIONS | GC-GLOBULIN | MULTIDISCIPLINARY SCIENCES | GROWTH | PHENOTYPE | POLYMORPHISM | FRACTURE RISK | OSTEOPOROSIS | Bone and Bones | Vitamin D-Binding Protein - metabolism | Humans | Genotype | Male | Bone Density - genetics | Parathyroid Hormone - blood | Parathyroid Hormone - genetics | Vitamin D - blood | Vitamin D - genetics | Vitamin D-Binding Protein - genetics | Parathyroid Hormone - metabolism | Adolescent | Alleles | Finland | Polymorphism, Single Nucleotide - genetics | Female | Vitamin D - analogs & derivatives | Vitamin D - metabolism | Calcium, Dietary - metabolism | Child | Vitamin D | Parathyroid hormone | Analysis | Calcifediol | Bones | Genetic aspects | Alfacalcidol | Single nucleotide polymorphisms | Children | Health aspects | Density | Protein binding | Gc gene | Spine | Spine (lumbar) | Single-nucleotide polymorphism | Proteins | Mens health | Osteoporosis | Computed tomography | Mineralization | Teenagers | Bone density | Calcium homeostasis | Binding | Dietary intake | Regression analysis | Gene expression | Bone mineral content | Studies | Hospitals | Environmental science | Bone mass | Diet | Genotyping | Adolescence | Surgical implants | Calcium | Homeostasis | Research | Gene polymorphism | Biomedical materials | Metabolites | Adolescents | Parathyroid | Genotypes | Age | Food | 25-Hydroxyvitamin D | Urine | Dual energy X-ray absorptiometry | Nutrition | Vitamin deficiency | Whites | Genetic diversity | Hip | Fractures | Bone mineral density | Bone | Polymorphism | Index Medicus
Journal Article