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Industrial Pollution Control and Efficient Licensing Processes: The Case of Swedish Regulatory Design.
- Published in:
- Sustainability (2071-1050), 2014, v. 6, n. 8, p. 5401, doi. 10.3390/su6085401
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- Publication type:
- Article
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
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- PLoS Genetics, 2019, v. 15, n. 2, p. 1, doi. 10.1371/journal.pgen.1007858
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- Publication type:
- Article
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
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- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007780
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- Publication type:
- Article
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
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- Human Genetics, 2021, v. 140, n. 5, p. 775, doi. 10.1007/s00439-020-02242-3
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- Publication type:
- Article
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33787-8
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- Publication type:
- Article
Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1929, doi. 10.1002/ajmg.a.63200
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- Publication type:
- Article
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 378, doi. 10.1002/ajmg.a.63031
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- Publication type:
- Article
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1143, doi. 10.1002/ajmg.a.61539
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- Publication type:
- Article
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1396, doi. 10.1002/ajmg.a.38214
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- Article
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
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- 2017
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- Publication type:
- journal article
Implementing Multi-level Governance? The Legal Basis and Implementation of the EU Water Framework Directive for Forestry in Sweden.
- Published in:
- Environmental Policy & Governance, 2012, v. 22, n. 2, p. 90, doi. 10.1002/eet.1574
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- Publication type:
- Article
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131883
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- Publication type:
- Article
Forests, Forestry and the Water Framework Directive in Sweden: A Trans-Disciplinary Commentary.
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- Forests (19994907), 2011, v. 2, n. 1, p. 261, doi. 10.3390/f2010261
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- Publication type:
- Article
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00549-y
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- Publication type:
- Article
Confined placental mosaicism of Duchenne muscular dystrophy: a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00520-3
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- Publication type:
- Article
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228622
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- Publication type:
- Article
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
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- Journal of Internal Medicine, 2023, v. 294, n. 1, p. 96, doi. 10.1111/joim.13649
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- Publication type:
- Article
A framework for evaluating the effectiveness of flood emergency management systems in Europe.
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- Ecology & Society, 2016, v. 21, n. 4, p. 327, doi. 10.5751/ES-08723-210427
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- Publication type:
- Article
Flood risk mitigation in Europe: how far away are we from the aspired forms of adaptive governance?
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- Ecology & Society, 2016, v. 21, n. 4, p. 52, doi. 10.5751/ES-08991-210449
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- Publication type:
- Article
Dealing with change and uncertainty within the regulatory frameworks for flood defense infrastructure in selected European countries.
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- Ecology & Society, 2016, v. 21, n. 4, p. 12, doi. 10.5751/ES-08908-210423
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- Publication type:
- Article
Getting invasive species on the political agenda: agenda setting and policy formulation in the case of ash dieback in the UK.
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- Biological Invasions, 2017, v. 19, n. 7, p. 1953, doi. 10.1007/s10530-017-1415-3
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- Publication type:
- Article
Challenges in Swedish hydropower - politics, economics and rights.
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- Research Ideas & Outcome Journal, 2017, v. 3, p. 1, doi. 10.3897/rio.3.e21305
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- Publication type:
- Article
Governance Strategies for Improving Flood Resilience in the Face of Climate Change.
- Published in:
- Water (20734441), 2018, v. 10, n. 11, p. 1595, doi. 10.3390/w10111595
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- Publication type:
- Article
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.
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- Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad213
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- Publication type:
- Article
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.549
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- Publication type:
- Article
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 402, doi. 10.1002/mgg3.81
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- Publication type:
- Article
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00380
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- Publication type:
- Article
Trade in fisheries services under the WTO and GATS framework.
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- Natural Resources Forum, 2020, v. 44, n. 2, p. 161, doi. 10.1111/1477-8947.12199
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- Publication type:
- Article
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
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- Biomedicines, 2022, v. 10, n. 12, p. 3171, doi. 10.3390/biomedicines10123171
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- Publication type:
- Article
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.803683
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- Publication type:
- Article
Before and After the Weser Case: Legal Application of the Water Framework Directive Environmental Objectives in Sweden.
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- Journal of Environmental Law, 2019, v. 31, n. 2, p. 265, doi. 10.1093/jel/eqz003
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- Publication type:
- Article
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation.
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- Human Mutation, 2022, v. 43, n. 11, p. 1567, doi. 10.1002/humu.24440
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- Publication type:
- Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
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- Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
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- Publication type:
- Article
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
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- Human Mutation, 2018, v. 39, n. 10, p. 1456, doi. 10.1002/humu.23605
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- Publication type:
- Article
Targeted copy number screening highlights an intragenic deletion of <italic>WDR63</italic> as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
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- Human Mutation, 2018, v. 39, n. 4, p. 495, doi. 10.1002/humu.23388
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- Publication type:
- Article
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
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- Human Mutation, 2017, v. 38, n. 2, p. 180, doi. 10.1002/humu.23146
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- Publication type:
- Article
Uncertainty of in situ low frequency reverberation time measurements from 20 Hz — An empirical study; Part II: Impulse response method.
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- Noise Control Engineering Journal, 2022, v. 70, n. 3, p. 298, doi. 10.3397/1/377024
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- Publication type:
- Article
Is 30 minutes between doses long enough in oral food challenges?
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- Pediatric Allergy & Immunology, 2014, v. 25, n. 6, p. 615, doi. 10.1111/pai.12256
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- Publication type:
- Article
Case report: Extending the spectrumof clinical andmolecular ?ndings in FOXC1 haploinsufficiency syndrome.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1174046
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- Publication type:
- Article
Influence of Substrate Heating and Nitrogen Flow on the Composition, Morphological and Mechanical Properties of SiN<sub>x</sub> Coatings Aimed for Joint Replacements.
- Published in:
- Materials (1996-1944), 2017, v. 10, n. 2, p. 173, doi. 10.3390/ma10020173
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- Publication type:
- Article
Surface and Subsurface Analyses of Metal-on-Polyethylene Total Hip Replacement Retrievals.
- Published in:
- Annals of Biomedical Engineering, 2016, v. 44, n. 5, p. 1685, doi. 10.1007/s10439-015-1462-9
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- Publication type:
- Article
Possibility to implement invasive species control in Swedish forests.
- Published in:
- AMBIO - A Journal of the Human Environment, 2016, v. 45, p. 214, doi. 10.1007/s13280-015-0754-5
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- Publication type:
- Article
Reducing the risk of invasive forest pests and pathogens: Combining legislation, targeted management and public awareness.
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- AMBIO - A Journal of the Human Environment, 2016, v. 45, p. 223, doi. 10.1007/s13280-015-0748-3
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- Publication type:
- Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
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- Publication type:
- Article