Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 5
Results: 17
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 561, doi. 10.1038/sj.ejhg.5201568
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- Publication type:
- Article
Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 577, doi. 10.1038/sj.ejhg.5201572
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- Article
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201577
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- Publication type:
- Article
A text-mining analysis of the human phenome.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 535, doi. 10.1038/sj.ejhg.5201585
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- Publication type:
- Article
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 549, doi. 10.1038/sj.ejhg.5201586
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- Publication type:
- Article
Schizophrenia genetics: uncovering positional candidate genes.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 512, doi. 10.1038/sj.ejhg.5201587
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- Publication type:
- Article
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590
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- Publication type:
- Article
Human Genome: Which proteins contribute to human-chimpanzee differences?
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 506, doi. 10.1038/sj.ejhg.5201596
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- Publication type:
- Article
Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 507, doi. 10.1038/sj.ejhg.5201597
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- Publication type:
- Article
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 588, doi. 10.1038/sj.ejhg.5201598
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- Publication type:
- Article
The need for interaction between assisted reproduction technology and genetics.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 509, doi. 10.1038/sj.ejhg.5201600
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- Publication type:
- Article
Clinical genetics: Medical genetics.
- Published in:
- 2006
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- Publication type:
- Book Review
Use of phenotypic covariates in association analysis by sequential addition of cases.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 529, doi. 10.1038/sj.ejhg.5201604
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- Publication type:
- Article
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 555, doi. 10.1038/sj.ejhg.5201607
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- Publication type:
- Article
A novel mutation in JARID1C gene associated with mental retardation.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 583, doi. 10.1038/sj.ejhg.5201608
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- Publication type:
- Article
Assisted reproduction and genetics.
- Published in:
- 2006
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- Publication type:
- Editorial
New variants in the mitochondrial genomes of schizophrenic patients.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 520, doi. 10.1038/sj.ejhg.5201606
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- Publication type:
- Article