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Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189664
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- Publication type:
- Article
Independent evolution of bitter-taste sensitivity in humans and chimpanzees.
- Published in:
- 2006
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- Publication type:
- Letter
Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 12, p. 665, doi. 10.1007/s100380200102
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- Publication type:
- Article
Genome Degeneration and Adaptation in a Nascent Stage of Symbiosis.
- Published in:
- Genome Biology & Evolution, 2014, v. 6, n. 1, p. 76, doi. 10.1093/gbe/evt210
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- Publication type:
- Article
Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.
- Published in:
- Nicotine & Tobacco Research, 2009, v. 11, n. 7, p. 785, doi. 10.1093/ntr/ntp064
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- Publication type:
- Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
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- Publication type:
- Article
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 4, p. 668, doi. 10.1002/ana.24365
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- Publication type:
- Article
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 481, doi. 10.1002/ana.23819
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- Publication type:
- Article
A Novel Human-Infection-Derived Bacterium Provides Insights into the Evolutionary Origins of Mutualistic Insect--Bacterial Symbioses.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1002990
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- Publication type:
- Article
A Candidate Gene Approach Identifies the CHRNA5-A3-B4 Region as a Risk Factor for Age-Dependent Nicotine Addiction.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 7, p. 1, doi. 10.1371/journal.pgen.1000125
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- Publication type:
- Article
Serum Antielastase and Neutrophil Elastase Levels in PiM Phenotype Cigarette Smokers with Airflow Obstruction.
- Published in:
- Respiration, 1985, v. 47, n. 4, p. 267, doi. 10.1159/000194782
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- Publication type:
- Article
Further Evidence of a Quantitative Trait Locus on Chromosome 18 Influencing Postural Change in Systolic Blood Pressure: The Hypertension Genetic Epidemiology Network (HyperGEN) Study
- Published in:
- American Journal of Hypertension, 2005, v. 18, n. 5, p. 672, doi. 10.1016/j.amjhyper.2004.12.004
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- Publication type:
- Article
Accelerated Evolution of Mitochondrial but Not Nuclear Genomes of Hymenoptera: New Evidence from Crabronid Wasps.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032826
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- Publication type:
- Article
Complex signatures of natural selection at <italic>GYPA</italic>.
- Published in:
- Human Genetics, 2018, v. 137, n. 2, p. 151, doi. 10.1007/s00439-018-1866-3
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- Publication type:
- Article
Lung epithelial response to cigarette smoke and modulation by the nicotinic alpha 7 receptor.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0187773
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- Publication type:
- Article
Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175367
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- Publication type:
- Article
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
- Published in:
- Human Mutation, 2009, v. 30, n. 12, p. 1657, doi. 10.1002/humu.21114
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- Publication type:
- Article
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
- Published in:
- Nature Medicine, 2015, v. 21, n. 5, p. 537, doi. 10.1038/nm0515-537c
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- Publication type:
- Article
Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
- Published in:
- Nature Medicine, 2015, v. 21, n. 4, p. 414, doi. 10.1038/nm0415-414b
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- Publication type:
- Article
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
- Published in:
- Nature Medicine, 2014, v. 20, n. 9, p. 992, doi. 10.1038/nm.3628
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- Publication type:
- Article
Position of Glycine Substitutions in the Triple Helix of COL6 A1, COL6 A2, and COL6 A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1558, doi. 10.1002/humu.22429
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- Publication type:
- Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426
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- Publication type:
- Article
Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 411, doi. 10.1093/hmg/ddab041
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- Publication type:
- Article
Evidence-based path to newborn screening for duchenne muscular dystrophy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 3, p. 304, doi. 10.1002/ana.23528
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- Publication type:
- Article
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1619
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- Publication type:
- Article