Found: 18
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An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 902, doi. 10.1038/sj.ejhg.5201835
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- Article
Estimating the odds ratios of Crohn disease for the main CARD15/NOD2 mutations using a conditional maximum likelihood method in pedigrees collected via affected family members.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 864, doi. 10.1038/sj.ejhg.5201839
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- Article
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 884, doi. 10.1038/sj.ejhg.5201841
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- Article
Differential haplotypic expression of the interleukin-18 gene.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 856, doi. 10.1038/sj.ejhg.5201842
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- Article
Genotypic and haplotypic associations of the DBH gene with plasma dopamine β-hydroxylase activity in African Americans.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 878, doi. 10.1038/sj.ejhg.5201838
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- Article
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 837, doi. 10.1038/sj.ejhg.5201791
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- Article
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 898, doi. 10.1038/sj.ejhg.5201826
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- Article
Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 823, doi. 10.1038/sj.ejhg.5201827
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- Article
So that is why you stink!
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- 2007
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- Book Review
Estimating cancer risk in HNPCC by the GRL method.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 831, doi. 10.1038/sj.ejhg.5201843
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- Article
Genetic influences on angina pectoris and its impact on coronary heart disease.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 872, doi. 10.1038/sj.ejhg.5201846
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- Article
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 843, doi. 10.1038/sj.ejhg.5201847
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- Publication type:
- Article
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 848, doi. 10.1038/sj.ejhg.5201852
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- Article
Vascular Pathologies: Angiogenomics: towards a genetic nosology and understanding of vascular anomalies.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 821, doi. 10.1038/sj.ejhg.5201856
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- Article
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 889, doi. 10.1038/sj.ejhg.5201844
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- Article
Molecular Bases of Mental Retardation.
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- 2007
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- Book Review
En route towards genetic medicine in practice: a clinical genetics guide in the post genomic era.
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- 2007
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- Publication type:
- Book Review
Association study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population.
- Published in:
- 2007
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