Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 1
Results: 25
Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 4, doi. 10.1038/ejhg.2011.146
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- Article
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 119, doi. 10.1038/ejhg.2011.140
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- Article
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 33, doi. 10.1038/ejhg.2011.135
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- Article
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 122, doi. 10.1038/ejhg.2011.125
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- Article
Coronary artery disease in Alström syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 117, doi. 10.1038/ejhg.2011.168
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- Article
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 27, doi. 10.1038/ejhg.2011.134
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- Article
No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration.
- Published in:
- 2012
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- Publication type:
- Letter
A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 97, doi. 10.1038/ejhg.2011.156
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- Publication type:
- Article
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 69, doi. 10.1038/ejhg.2011.145
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- Publication type:
- Article
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 41, doi. 10.1038/ejhg.2011.154
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- Publication type:
- Article
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 58, doi. 10.1038/ejhg.2011.126
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- Article
Brazilian urban population genetic structure reveals a high degree of admixture.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 111, doi. 10.1038/ejhg.2011.144
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- Publication type:
- Article
Natural positive selection and north-south genetic diversity in East Asia.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 102, doi. 10.1038/ejhg.2011.139
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- Publication type:
- Article
A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 84, doi. 10.1038/ejhg.2011.148
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- Publication type:
- Article
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 77, doi. 10.1038/ejhg.2011.138
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- Publication type:
- Article
Clinical utility gene card for: multiple endocrine neoplasia type 2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.142
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- Publication type:
- Article
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 20, doi. 10.1038/ejhg.2011.136
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- Publication type:
- Article
Clinical utility gene card for: Alveolar rhabdomyosarcoma.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.147
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- Publication type:
- Article
Clinical utility gene card for: Mucopolysaccharidosis type II.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.143
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- Publication type:
- Article
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 125, doi. 10.1038/ejhg.2011.210
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- Publication type:
- Article
Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 91, doi. 10.1038/ejhg.2011.149
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- Article
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 11, doi. 10.1038/ejhg.2011.141
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- Publication type:
- Article
C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 64, doi. 10.1038/ejhg.2011.151
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- Article
Reply to Cipriani et al.
- Published in:
- 2012
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- Publication type:
- Letter
Advances in Alport syndrome diagnosis using next-generation sequencing.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 50, doi. 10.1038/ejhg.2011.164
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- Article