Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 2
Results: 13
Prevalence of lysosomal storage diseases in Portugal.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 87, doi. 10.1038/sj.ejhg.5201044
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- Article
Ancient mtDNA analysis and the origin of the Guanches.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201075
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- Article
Mutations responsible for 3-phosphoserine phosphatase deficiency.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 163, doi. 10.1038/sj.ejhg.5201083
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- Article
Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case-control study.
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- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 132, doi. 10.1038/sj.ejhg.5201084
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- Publication type:
- Article
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
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- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 115, doi. 10.1038/sj.ejhg.5201090
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- Article
Genome-wide scanning for linkage in Finnish breast cancer families.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 98, doi. 10.1038/sj.ejhg.5201091
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- Article
Characterisation of the dysferlin skeletal muscle promoter.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 127, doi. 10.1038/sj.ejhg.5201092
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- Publication type:
- Article
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 121, doi. 10.1038/sj.ejhg.5201094
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- Article
Familial Mediterranean fever seems to be not uncommon in Greece.
- Published in:
- 2004
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- Publication type:
- Letter
In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201098
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- Publication type:
- Article
Transmission disequilibrium test (TDT) for case-control studies.
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- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 105, doi. 10.1038/sj.ejhg.5201099
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- Publication type:
- Article
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201100
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- Publication type:
- Article
Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 93, doi. 10.1038/sj.ejhg.5201118
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- Publication type:
- Article