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Discovery of Novel Sequences in 1,000 Swedish Genomes.
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- Molecular Biology & Evolution, 2020, v. 37, n. 1, p. 18, doi. 10.1093/molbev/msz176
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- Article
Membrane protein shaving with thermolysin can be used to evaluate topology predictors.
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- Proteomics, 2013, v. 13, n. 9, p. 1467, doi. 10.1002/pmic.201200517
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- Article
Foxc2 is essential for podocyte function.
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- Physiological Reports, 2019, v. 7, n. 9, p. N.PAG, doi. 10.14814/phy2.14083
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- Article
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00896
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- Article
Distributions and Losses of Logging Residues at Clear-Felled Areas during Extraction for Bioenergy: Comparing Dried- and Fresh-Stacked Method.
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- Forests (19994907), 2015, v. 6, n. 11, p. 4212, doi. 10.3390/f6114212
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- Article
Quantification and Profiling of Early and Late Differentiation Stage T Cells in Mantle Cell Lymphoma Reveals Immunotherapeutic Targets in Subsets of Patients.
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- Cancers, 2024, v. 16, n. 13, p. 2289, doi. 10.3390/cancers16132289
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- Publication type:
- Article
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
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- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163362
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- Article
Loqusdb: added value of an observations database of local genomic variation.
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- BMC Bioinformatics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12859-020-03609-z
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- Article
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.
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- BMC Bioinformatics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12859-020-3451-8
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- Publication type:
- Article
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
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- Journal of Internal Medicine, 2024, v. 296, n. 3, p. 234, doi. 10.1111/joim.13815
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- Article
Proteomics in Trypanosoma cruzi - localization of novel proteins to various organelles.
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- Proteomics, 2008, v. 8, n. 13, p. 2735, doi. 10.1002/pmic.200700940
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- Article
Comment to: "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies".
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- Movement Disorders, 2024, v. 39, n. 6, p. 1077, doi. 10.1002/mds.29827
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- 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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- Article
Of Hajj and home: Roots visits to Mecca and Bangladesh in everyday belonging.
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- Ethnicities, 2013, v. 13, n. 4, p. 457, doi. 10.1177/1468796813483731
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- Publication type:
- Article
Mentalizing and Emotional Labor Facilitate Equine-Assisted Social Work with Self-harming Adolescents.
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- Child & Adolescent Social Work Journal, 2015, v. 32, n. 4, p. 329, doi. 10.1007/s10560-015-0376-6
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- Publication type:
- Article
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
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- Clinical Genetics, 2018, v. 94, n. 6, p. 528, doi. 10.1111/cge.13448
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- Article
Front Cover.
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- Clinical Genetics, 2018, v. 94, n. 6, p. i, doi. 10.1111/cge.13478
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- Article
Transposable element insertions in 1000 Swedish individuals.
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- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289346
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- Publication type:
- Article
The genome of the heartworm, Dirofilaria immitis, reveals drug and vaccine targets.
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- FASEB Journal, 2012, v. 26, n. 11, p. 4650, doi. 10.1096/fj.12-205096
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- Article
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
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- Human Mutation, 2022, v. 43, n. 6, p. 708, doi. 10.1002/humu.24358
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- 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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- 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
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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- Article
Presence of brown adipocytes in retroperitoneal fat from patients with benign adrenal tumors: relationship with outdoor temperature.
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- 2013
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- Publication type:
- journal article
Governing through Prevent? Regulation and Contested Practice in State–Muslim Engagement.
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- Sociology, 2016, v. 50, n. 1, p. 160, doi. 10.1177/0038038514564437
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- Publication type:
- Article
Olympic Proportions: The Expanding Scalar Politics of the London ‘Olympics Mega-Mosque’ Controversy.
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- Sociology, 2011, v. 45, n. 5, p. 798, doi. 10.1177/0038038511413415
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- Article
A review of methods for determining structural fire severity—Part I: A historical perspective.
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- Fire & Materials, 2022, v. 46, n. 1, p. 153, doi. 10.1002/fam.2962
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- Article
A review of methods for determining structural fire severity—Part II: Analysis and review.
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- Fire & Materials, 2022, v. 46, n. 1, p. 138, doi. 10.1002/fam.2961
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- Article
Pursuing behavioral realism in Virtual Reality for fire evacuation research.
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- Fire & Materials, 2021, v. 45, n. 4, p. 462, doi. 10.1002/fam.2922
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- Article
Exploring the biomechanics of walking and crowd "flow".
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- Fire & Materials, 2020, v. 44, n. 6, p. 879, doi. 10.1002/fam.2889
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- Publication type:
- Article
Evacuation experiments in a virtual reality high-rise building: exit choice and waiting time for evacuation elevators.
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- Fire & Materials, 2016, v. 40, n. 4, p. 554, doi. 10.1002/fam.2310
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- Article
The impact of smoke on walking speed.
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- Fire & Materials, 2014, v. 38, n. 7, p. 744, doi. 10.1002/fam.2217
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- Article
Outcomes of multilobar resections for epilepsy in Sweden 1990-2013: a national population-based study.
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- Acta Neurochirurgica, 2016, v. 158, n. 6, p. 1151, doi. 10.1007/s00701-016-2807-3
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- Article
Tractography of Meyer's loop for temporal lobe resection-validation by prediction of postoperative visual field outcome.
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- Acta Neurochirurgica, 2015, v. 157, n. 6, p. 947, doi. 10.1007/s00701-015-2403-y
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- Publication type:
- Article
Long-Term Outcome after Treatment of Hydrocephalus in Children.
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- Pediatric Neurosurgery, 2010, v. 46, n. 3, p. 221, doi. 10.1159/000319365
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- Article
Advanced Electrochemical Impedance Spectroscopy of Industrial Ni-Cd Batteries.
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- Batteries, 2022, v. 8, n. 6, p. 50, doi. 10.3390/batteries8060050
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- Publication type:
- Article
TRPA1 MECHANORECEPTORS MEDIATE THE IL-6 RESPONSE TO A SINGLE PD DWELL IN THE RAT.
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- Peritoneal Dialysis International, 2017, v. 37, n. 5, p. 509, doi. 10.3747/pdi.2016.00290
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- Article
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.666
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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
Case report: Extending the spectrumof clinical andmolecular ?ndings in FOXC1 haploinsufficiency syndrome.
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- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1174046
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- Article
The Lighthouse of Stalingrad.
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- 2023
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- Publication type:
- Book Review
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.
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- PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0245488
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- Publication type:
- Article
Computer-assisted planning for the insertion of stereoelectroencephalography electrodes for the investigation of drug-resistant focal epilepsy: an external validation study.
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- Journal of Neurosurgery, 2019, v. 130, n. 2, p. 601, doi. 10.3171/2017.10.JNS171826
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- Publication type:
- Article
Visual pathway impairment by pituitary adenomas: quantitative diagnostics by diffusion tensor imaging.
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- Journal of Neurosurgery, 2017, v. 127, n. 3, p. 569, doi. 10.3171/2016.8.JNS161290
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- Publication type:
- Article
Impact of region-of-interest method on quantitative analysis of DTI data in the optic tracts.
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- BMC Medical Imaging, 2016, v. 16, p. 1, doi. 10.1186/s12880-016-0145-9
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- Publication type:
- Article
Patient-specific brain arteries molded as a flexible phantom model using 3D printed water-soluble resin.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14279-7
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- Article
Profitability of Crop Cultivation in Small Arable Fields When Taking Economic Values of Ecosystem Services into Account.
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- Sustainability (2071-1050), 2021, v. 13, n. 23, p. 13354, doi. 10.3390/su132313354
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- Article
Ronchi test for characterization of X-ray nanofocusing optics and beamlines.
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- Journal of Synchrotron Radiation, 2014, v. 21, n. 5, p. 1105, doi. 10.1107/S160057751401323X
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- Article
Assistive/Socially Assistive Robotic Platform for Therapy and Recovery: Patient Perspectives.
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- International Journal of Telemedicine & Applications, 2013, p. 1, doi. 10.1155/2013/948087
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- Publication type:
- Article
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 776, doi. 10.1002/jbmr.3083
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- Publication type:
- Article