Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 7
Results: 19
Linkage to chromosome 11p12 in two Maltese families with a highly penetrant form of osteoporosis.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 800, doi. 10.1038/sj.ejhg.5201814
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- Publication type:
- Article
Population screening and cascade testing for carriers of SMA.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 759, doi. 10.1038/sj.ejhg.5201821
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- Publication type:
- Article
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 767, doi. 10.1038/sj.ejhg.5201823
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- Publication type:
- Article
Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 774, doi. 10.1038/sj.ejhg.5201825
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- Publication type:
- Article
Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 791, doi. 10.1038/sj.ejhg.5201829
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- Publication type:
- Article
Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 810, doi. 10.1038/sj.ejhg.5201830
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- Publication type:
- Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
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- Publication type:
- Article
Transgenerational response to nutrition, early life circumstances and longevity.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 784, doi. 10.1038/sj.ejhg.5201832
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- Publication type:
- Article
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833
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- Publication type:
- Article
Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 752, doi. 10.1038/sj.ejhg.5201834
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- Publication type:
- Article
Comment on Gellekink et al.
- Published in:
- 2007
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- Publication type:
- Letter
The clinical relevance of microsatellite alterations in head and neck squamous cell carcinoma: a critical review.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 734, doi. 10.1038/sj.ejhg.5201845
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- Publication type:
- Article
Mining the literature for relationships between genes.
- Published in:
- 2007
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- Publication type:
- Book Review
The federated database – a basis for biobank-based post-genome studies, integrating phenome and genome data from 600 000 twin pairs in Europe.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 718, doi. 10.1038/sj.ejhg.5201850
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- Publication type:
- Article
Marfan syndrome: clinical diagnosis and management.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 724, doi. 10.1038/sj.ejhg.5201851
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- Publication type:
- Article
Talking hypotheses.
- Published in:
- 2007
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- Publication type:
- Book Review
Fanconi Anemia: Fanconi anemia, breast and embryonal cancer risk revisited.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations.
- Published in:
- 2007
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- Publication type:
- Correction Notice
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
- Published in:
- 2007
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- Publication type:
- Correction Notice