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Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 402, doi. 10.1007/s004390100598
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- Publication type:
- Article
Identification of an emerin–β-catenin complex in the heart important for intercalated disc architecture and β-catenin localisation.
- Published in:
- Cellular & Molecular Life Sciences, 2010, v. 67, n. 5, p. 781, doi. 10.1007/s00018-009-0219-8
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- Publication type:
- Article
Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2816, doi. 10.1093/hmg/ddm238
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- Article
Toxoplasma’s Taste for Exotic Fat.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 11, p. 1, doi. 10.1371/journal.pbio.1002289
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- Publication type:
- Article
Evolution of a Species-Specific Determinant within Human CRM1 that Regulates the Post-transcriptional Phases of HIV-1 Replication.
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- PLoS Pathogens, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.ppat.1002395
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- Publication type:
- Article
Mitochondria—A billion years of cohabitation.
- Published in:
- PLoS Biology, 2017, v. 15, n. 3, p. 1, doi. 10.1371/journal.pbio.2002338
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- Publication type:
- Article
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 852, doi. 10.1038/ejhg.2010.28
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- Article
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1423, doi. 10.1038/ejhg.2009.91
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- Publication type:
- Article
Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 619, doi. 10.1038/sj.ejhg.5201996
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- Publication type:
- Article
The 3'-untranslated region of the dystrophin gene--conservation and consequences of loss.
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- European Journal of Human Genetics, 2002, v. 10, n. 7, p. 412, doi. 10.1038/sj.ejhg.5200822
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- Publication type:
- Article
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1–Xp21.3 mental retardation.
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- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 87, doi. 10.1038/sj.ejhg.5200415
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- Publication type:
- Article
Mutation of the RAD51C gene in a Fanconi anemia–like disorder.
- Published in:
- Nature Genetics, 2010, v. 42, n. 5, p. 406, doi. 10.1038/ng.570
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- Publication type:
- Article
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 830, doi. 10.1038/ng2061
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- Publication type:
- Article
A Screen for Retrotransposed Imprinted Genes Reveals an Association between X Chromosome Homology and Maternal Germ-Line Methylation.
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- PLoS Genetics, 2007, v. 3, n. 2, p. 192, doi. 10.1371/journal.pgen.0030020
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- Publication type:
- Article
Large-Scale Modelling of the Divergent Spectrin Repeats in Nesprins: Giant Modular Proteins
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063633
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- Publication type:
- Article
A CASE-BY-CASE EVOLUTIONARY ANALYSIS OF FOUR IMPRINTED RETROGENES.
- Published in:
- Evolution, 2011, v. 65, n. 5, p. 1413, doi. 10.1111/j.1558-5646.2010.01213.x
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- Publication type:
- Article
Trees as a metaphor to understand relationships in biology.
- Published in:
- PLoS Biology, 2024, v. 22, n. 5, p. 1, doi. 10.1371/journal.pbio.3002681
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- Publication type:
- Article
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.
- Published in:
- 2009
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- Publication type:
- Case Study
Addressing biodiversity loss by building a shared future.
- Published in:
- PLoS Biology, 2022, v. 20, n. 5, p. 1, doi. 10.1371/journal.pbio.3001690
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- Article
The first six years of meta-research at PLOS Biology.
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- PLoS Biology, 2022, v. 20, n. 1, p. 1, doi. 10.1371/journal.pbio.3001553
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- Publication type:
- Article
Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
- Published in:
- Human Mutation, 2006, v. 27, n. 1, p. 44, doi. 10.1002/humu.20264
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- Article
Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #614 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/614.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9143
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- Publication type:
- Article
Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 126, doi. 10.1002/humu.1380060205
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- Publication type:
- Article
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations.
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- Human Mutation, 1994, v. 4, n. 1, p. 1, doi. 10.1002/humu.1380040102
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- Publication type:
- Article
Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts.
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- Human Mutation, 1993, v. 2, n. 4, p. 293, doi. 10.1002/humu.1380020409
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- Publication type:
- Article
MAP1B Interaction with the FW Domain of the Autophagic Receptor Nbr1 Facilitates Its Association to the Microtubule Network.
- Published in:
- International Journal of Cell Biology, 2012, p. 1, doi. 10.1155/2012/208014
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- Publication type:
- Article
Dystrophin and the brain.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 1, p. 12, doi. 10.1111/j.1469-8749.2010.03836.x
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- Publication type:
- Article
Living Life on a Magnet.
- Published in:
- PLoS Biology, 2016, v. 14, n. 8, p. 1, doi. 10.1371/journal.pbio.2000613
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- Publication type:
- Article
Good Amyloid, Bad Amyloid—What’s the Difference?
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- PLoS Biology, 2016, v. 14, n. 1, p. 1, doi. 10.1371/journal.pbio.1002362
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- Publication type:
- Article
Toxoplasma’s Taste for Exotic Fat.
- Published in:
- PLoS Biology, 2015, v. 13, n. 10, p. 1, doi. 10.1371/journal.pbio.1002289
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- Publication type:
- Article
The Fitness Effects of Love.
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- PLoS Biology, 2015, v. 13, n. 9, p. 1, doi. 10.1371/journal.pbio.1002249
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- Publication type:
- Article
Intractable Tangles in the Bird Family Tree.
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- PLoS Biology, 2015, v. 13, n. 8, p. 1, doi. 10.1371/journal.pbio.1002225
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- Publication type:
- Article
Take Pax6 for a Cortical 6-Pack.
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- PLoS Biology, 2015, v. 13, n. 8, p. 1, doi. 10.1371/journal.pbio.1002218
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- Article
Chimps, Humans, and the Hominid Struggle against Viruses.
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- PLoS Biology, 2015, v. 13, n. 5, p. 1, doi. 10.1371/journal.pbio.1002145
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- Publication type:
- Article
Lewontin’s Paradox Resolved? In Larger Populations, Stronger Selection Erases More Diversity.
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- PLoS Biology, 2015, v. 13, n. 4, p. 1, doi. 10.1371/journal.pbio.1002113
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- Article
The Blind Men and the Piwi Elephant—Opening a Can of Worms.
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- PLoS Biology, 2015, v. 13, n. 2, p. 1, doi. 10.1371/journal.pbio.1002062
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- Article
Flagging the Fatty Acid Ferryman.
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- PLoS Biology, 2015, v. 13, n. 2, p. 1, doi. 10.1371/journal.pbio.1002054
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- Article
What Goes “99-Thump?”.
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- PLoS Biology, 2014, v. 12, n. 11, p. 1, doi. 10.1371/journal.pbio.1002006
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- Article
Living in Constant Crisis—When Stress Management Becomes the Problem.
- Published in:
- PLoS Biology, 2014, v. 12, n. 11, p. 1, doi. 10.1371/journal.pbio.1001999
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- Publication type:
- Article
Symbiosis Plasmids Bring Their Own Mutagen to the Wedding Party.
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- PLoS Biology, 2014, v. 12, n. 9, p. 1, doi. 10.1371/journal.pbio.1001943
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- Article
Bugs Split to Attack and Gamble to Survive.
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- PLoS Biology, 2014, v. 12, n. 8, p. 1, doi. 10.1371/journal.pbio.1001929
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- Article
What Are Little Boys and Girls Made of? The Origins of Sexual Dimorphism.
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- PLoS Biology, 2014, v. 12, n. 7, p. 1, doi. 10.1371/journal.pbio.1001905
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- Article
Stressed Yeast Paint a Picture of Dorian Gray.
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- PLoS Biology, 2014, v. 12, n. 6, p. 1, doi. 10.1371/journal.pbio.1001885
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- Publication type:
- Article
Jocks versus Geeks—the Downside of Genius?
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- PLoS Biology, 2014, v. 12, n. 5, p. 1, doi. 10.1371/journal.pbio.1001872
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- Article
Braking Bad: Stopping Translation in Hard Times.
- Published in:
- PLoS Biology, 2014, v. 12, n. 5, p. 1, doi. 10.1371/journal.pbio.1001867
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- Article
A Galactic View of Nature's Decontamination Squad.
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- PLoS Biology, 2014, v. 12, n. 4, p. 1, doi. 10.1371/journal.pbio.1001842
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- Article
The Velvet Underground Emerges.
- Published in:
- PLoS Biology, 2013, v. 11, n. 12, p. 1, doi. 10.1371/journal.pbio.1001751
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- Article
Building a Sea Urchin on Shifting Sands.
- Published in:
- PLoS Biology, 2013, v. 11, n. 10, p. 1, doi. 10.1371/journal.pbio.1001690
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- Article
Collection Overview: Ten Years of Wonderful Open Access Science.
- Published in:
- 2013
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- Publication type:
- Editorial
Deep Genealogy and the Dilution of Risk.
- Published in:
- PLoS Biology, 2013, v. 11, n. 9, p. 1, doi. 10.1371/journal.pbio.1001660
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- Publication type:
- Article