Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 5
Results: 8
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 334, doi. 10.1038/sj.ejhg.5200807
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- Article
Combined segregation and linkage analysis of HLA markers in familial psoriasis.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 327, doi. 10.1038/sj.ejhg.5200810
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- Article
Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the β globin gene.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 320, doi. 10.1038/sj.ejhg.5200809
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- Article
Comparison of family based haplotype methods using intragenic SNPs in candidate genes.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 313, doi. 10.1038/sj.ejhg.5200808
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- Article
Guidelines for the appropriate use of genetic tests in infertile couples.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 303, doi. 10.1038/sj.ejhg.5200805
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Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 297, doi. 10.1038/sj.ejhg.5200804
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Genetic analysis of Paraoxonase (PON1) locus reveals an increased frequency of Arg192 allele in centenarians.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 292
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Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
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- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 289, doi. 10.1038/sj.ejhg.5200793
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- Article