Found: 13
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Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 197, doi. 10.1038/sj.ejhg.5200605
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- Article
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 178, doi. 10.1038/sj.ejhg.5200600
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- Article
Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 185, doi. 10.1038/sj.ejhg.5200602
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- Article
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 171, doi. 10.1038/sj.ejhg.5200604
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- Article
Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI).
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 153, doi. 10.1038/sj.ejhg.5200606
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- Article
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 209, doi. 10.1038/sj.ejhg.5200613
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- Article
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 160
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- Article
Parental origin of de novo MECP2 mutations in Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 231, doi. 10.1038/sj.ejhg.5200618
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- Article
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 226, doi. 10.1038/sj.ejhg.5200607
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- Article
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 191, doi. 10.1038/sj.ejhg.5200608
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- Article
The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 204, doi. 10.1038/sj.ejhg.5200609
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- Article
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 217, doi. 10.1038/sj.ejhg.5200610
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- Article
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 165
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- Article