Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 1
Results: 14
Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200240
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- Publication type:
- Article
Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 20, doi. 10.1038/sj.ejhg.5200231
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- Publication type:
- Article
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 34, doi. 10.1038/sj.ejhg.5200242
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- Publication type:
- Article
Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 88, doi. 10.1038/sj.ejhg.5200243
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- Publication type:
- Article
An integrated map of chromosome 18 CAG trinucleotide repeat loci.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 12, doi. 10.1038/sj.ejhg.5200246
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- Publication type:
- Article
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247
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- Publication type:
- Article
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 52, doi. 10.1038/sj.ejhg.5200248
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- Publication type:
- Article
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 68, doi. 10.1038/sj.ejhg.5200260
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- Publication type:
- Article
New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200265
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- Publication type:
- Article
Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200271
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- Publication type:
- Article
Spectrum of mutations in fucosidosis.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 60, doi. 10.1038/sj.ejhg.5200272
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- Publication type:
- Article
First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 98, doi. 10.1038/sj.ejhg.5200291
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- Publication type:
- Article
Errata.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 102
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- Publication type:
- Article
Further growth in 1999.
- Published in:
- 1999
- By:
- Publication type:
- Editorial