Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 12
Results: 20
Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 951, doi. 10.1038/sj.ejhg.5201063
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- Publication type:
- Article
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 955, doi. 10.1038/sj.ejhg.5201064
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- Publication type:
- Article
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 923, doi. 10.1038/sj.ejhg.5201066
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- Publication type:
- Article
Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7?kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 931, doi. 10.1038/sj.ejhg.5201069
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- Publication type:
- Article
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.
- Published in:
- 2003
- By:
- Publication type:
- Report
Prenatal testing for late-onset neurogenetic diseases.
- Published in:
- 2003
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- Publication type:
- Book Review
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 937, doi. 10.1038/sj.ejhg.5201072
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- Publication type:
- Article
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 916, doi. 10.1038/sj.ejhg.5201073
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- Publication type:
- Article
No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.
- Published in:
- 2003
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- Publication type:
- Letter
Recurrent triploidy of maternal origin.
- Published in:
- 2003
- By:
- Publication type:
- Report
Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype).
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 945, doi. 10.1038/sj.ejhg.5201077
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- Publication type:
- Article
Problems in detecting mosaic DNA methylation in Angelman syndrome.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 959, doi. 10.1038/sj.ejhg.5201079
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- Publication type:
- Article
ESHG recommendations on key issues related to the advances in human genetics.
- Published in:
- 2003
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- Publication type:
- Editorial
Genetic information and testing in insurance and employment: technical, social and ethical issues.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 909, doi. 10.1038/sj.ejhg.5201104
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- Publication type:
- Article
Population genetic screening programmes: technical, social and ethical issues.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 903, doi. 10.1038/sj.ejhg.5201105
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- Publication type:
- Article
Provision of genetic services in Europe: current practices and issues.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 900, doi. 10.1038/sj.ejhg.5201106
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- Publication type:
- Article
Data storage and DNA banking for biomedical research: technical, social and ethical issues.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 906, doi. 10.1038/sj.ejhg.5201107
- By:
- Publication type:
- Article
Author Index to Volume 11.
- Published in:
- 2003
- Publication type:
- Other
Keyword Index to Volume 11.
- Published in:
- 2003
- Publication type:
- Other