Found: 11
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Genetic Variations Creating MicroRNA Target Sites in the FXN 3'-UTR Affect Frataxin Expression in Friedreich Ataxia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054791
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- Publication type:
- Article
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 49, doi. 10.1038/ejhg.2014.60
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- Publication type:
- Article
mtDNA polymorphisms in five French groups: importance of regional sampling.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 4, p. 293, doi. 10.1038/sj.ejhg.5201145
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- Publication type:
- Article
Inter- and Extra-Indian Admixture and Genetic Diversity in Reunion Island Revealed by Analysis of Mitochondrial DNA.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 314, doi. 10.1111/j.1469-1809.2009.00519.x
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- Publication type:
- Article
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 177, doi. 10.1111/cge.13460
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- Publication type:
- Article
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152
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- Publication type:
- Article
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4479, doi. 10.1093/hmg/ddu160
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- Publication type:
- Article
Complete Mitochondrial Sequences for Haplogroups M23 and M46: Insights into the Asian Ancestry of the Malagasy Population.
- Published in:
- Human Biology, 2009, v. 81, n. 4, p. 495, doi. 10.3378/027.081.0407
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- Publication type:
- Article
Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 2, p. 168, doi. 10.1002/pd.2427
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- Publication type:
- Article
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 1021, doi. 10.1002/humu.22599
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- Publication type:
- Article
Evolution of the proto-MHC ancestral region: more evidence for the plesiomorphic organisation of human chromosome 9q34 region.
- Published in:
- 2004
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- Publication type:
- Erratum