Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 10
Results: 22
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1038, doi. 10.1038/ejhg.2011.84
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- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1074, doi. 10.1038/ejhg.2011.86
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- Article
Clinical utility gene card for: Alström syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.72
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- Publication type:
- Article
Mosaics and moles.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1026, doi. 10.1038/ejhg.2011.93
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- Publication type:
- Article
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1052, doi. 10.1038/ejhg.2011.100
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- Article
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1032, doi. 10.1038/ejhg.2011.67
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- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
- Published in:
- 2011
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- Publication type:
- Correction Notice
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- 2011
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- Publication type:
- Correction Notice
Assessing the pathological relevance of SPINK1 promoter variants.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1066, doi. 10.1038/ejhg.2011.79
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- Publication type:
- Article
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1059, doi. 10.1038/ejhg.2011.89
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- Publication type:
- Article
Clinical utility gene card for: Menkes disease.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.56
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- Article
A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.
- Published in:
- 2011
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- Correction Notice
Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1104, doi. 10.1038/ejhg.2011.76
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- Article
Rapid aneuploidy detection or karyotyping? Ethical reflection.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1020, doi. 10.1038/ejhg.2011.82
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- Publication type:
- Article
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.68
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- Publication type:
- Article
Normal glycosylation screening does not rule out SRD5A3-CDG.
- Published in:
- 2011
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- Publication type:
- Letter
GWAS Integrator: a bioinformatics tool to explore human genetic associations reported in published genome-wide association studies.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1095, doi. 10.1038/ejhg.2011.91
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- Publication type:
- Article
Finding disease genes: a fast and flexible approach for analyzing high-throughput data.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1090, doi. 10.1038/ejhg.2011.81
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- Article
Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.
- Published in:
- 2011
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- Publication type:
- Correction Notice
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1082, doi. 10.1038/ejhg.2011.75
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- Publication type:
- Article
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1045, doi. 10.1038/ejhg.2011.85
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- Publication type:
- Article
Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1100, doi. 10.1038/ejhg.2011.88
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- Publication type:
- Article