Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 3
Results: 11
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 217, doi. 10.1038/sj.ejhg.5200789
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- Article
Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 213, doi. 10.1038/sj.ejhg.5200782
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- Article
DNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 210, doi. 10.1038/sj.ejhg.5200780
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- Article
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 204
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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 197, doi. 10.1038/sj.ejhg.5200784
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A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 188, doi. 10.1038/sj.ejhg.5200779
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Hirschsprung associated GDNF mutations do not prevent RET activation.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 183, doi. 10.1038/sj.ejhg.5200785
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A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 177, doi. 10.1038/sj.ejhg.5200787
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Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 167, doi. 10.1038/sj.ejhg.5200781
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- Article
Postaxial polydactyly type A/B (PAP-A/B) in linked to chromosome 19p13.1-13.2 in a chinese kindred.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 162, doi. 10.1038/sj.ejhg.5200790
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- Article
Emery-Dreifuss muscular dystrophy.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 157, doi. 10.1038/sj.ejhg.5200744
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- Article