Works matching IS 10184813 AND DT 2003 AND VI 11
Results: 180
Introduction.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, p. S1, doi. 10.1038/sj.ejhg.5201109
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- Publication type:
- Article
Provision of genetic services in Europe: current practices and issues.
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- European Journal of Human Genetics, 2003, v. 11, p. S2, doi. 10.1038/sj.ejhg.5201110
- Publication type:
- Article
Provision of genetic services in Europe: current practices and issues.
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- European Journal of Human Genetics, 2003, v. 11, p. S13, doi. 10.1038/sj.ejhg.5201111
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- Article
Population genetic screening programmes: technical, social and ethical issues.
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- European Journal of Human Genetics, 2003, v. 11, p. S5, doi. 10.1038/sj.ejhg.5201112
- Publication type:
- Article
Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 951, doi. 10.1038/sj.ejhg.5201063
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- Article
Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.
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- European Journal of Human Genetics, 2003, v. 11, p. S88, doi. 10.1038/sj.ejhg.5201114
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- Article
Data storage and DNA banking for biomedical research: technical, social and ethical issues.
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- European Journal of Human Genetics, 2003, v. 11, p. S8, doi. 10.1038/sj.ejhg.5201115
- Publication type:
- Article
Genetic information and testing in insurance and employment: technical, social and ethical issues.
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- European Journal of Human Genetics, 2003, v. 11, p. S11, doi. 10.1038/sj.ejhg.5201116
- Publication type:
- Article
Genetic information and testing in insurance and employment: technical, social and ethical issues.
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- European Journal of Human Genetics, 2003, v. 11, p. S123, doi. 10.1038/sj.ejhg.5201117
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- Article
Population genetic screening programmes: principles, techniques, practices, and policies.
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- European Journal of Human Genetics, 2003, v. 11, p. S49, doi. 10.1038/sj.ejhg.5201113
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- Article
A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 955, doi. 10.1038/sj.ejhg.5201064
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- Article
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 923, doi. 10.1038/sj.ejhg.5201066
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- 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.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 931, doi. 10.1038/sj.ejhg.5201069
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- Article
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.
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- 2003
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- Publication type:
- Report
Prenatal testing for late-onset neurogenetic diseases.
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- 2003
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- Book Review
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 937, doi. 10.1038/sj.ejhg.5201072
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- 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.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 916, doi. 10.1038/sj.ejhg.5201073
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- Article
No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.
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- 2003
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- Publication type:
- Letter
Recurrent triploidy of maternal origin.
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- 2003
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- 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).
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 945, doi. 10.1038/sj.ejhg.5201077
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- Article
Problems in detecting mosaic DNA methylation in Angelman syndrome.
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- 2003
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- 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.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 959, doi. 10.1038/sj.ejhg.5201079
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- Article
ESHG recommendations on key issues related to the advances in human genetics.
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- 2003
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- Publication type:
- Editorial
Genetic information and testing in insurance and employment: technical, social and ethical issues.
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- 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.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 903, doi. 10.1038/sj.ejhg.5201105
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- Article
Provision of genetic services in Europe: current practices and issues.
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- 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.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 906, doi. 10.1038/sj.ejhg.5201107
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- 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
Power of QTL detection using association tests with family controls.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 819, doi. 10.1038/sj.ejhg.5201042
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- Article
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 858, doi. 10.1038/sj.ejhg.5201050
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- Publication type:
- Article
Meta and pooled analysis of European coeliac disease data.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 828, doi. 10.1038/sj.ejhg.5201051
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- Article
Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 835, doi. 10.1038/sj.ejhg.5201052
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- Article
Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 845, doi. 10.1038/sj.ejhg.5201053
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- Article
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 872, doi. 10.1038/sj.ejhg.5201055
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- Article
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 896, doi. 10.1038/sj.ejhg.5201056
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- Article
Is the novel SCKL3 at 14q23 the predominant Seckel locus?
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 851, doi. 10.1038/sj.ejhg.5201057
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- Publication type:
- Article
No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 884, doi. 10.1038/sj.ejhg.5201058
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- Article
The deleted in colorectal carcinoma (DCC) gene 201 R ? G polymorphism: no evidence for genetic association with autoimmune disease.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 840, doi. 10.1038/sj.ejhg.5201059
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- Article
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 866, doi. 10.1038/sj.ejhg.5201060
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- Publication type:
- Article
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 888, doi. 10.1038/sj.ejhg.5201061
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- Article
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 892, doi. 10.1038/sj.ejhg.5201062
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- Publication type:
- Article
Karyotyping of human synaptonemal complexes by cenM-FISH.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201067
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- Publication type:
- Article
Global survey of haplotype frequencies and linkage disequilibrium at the RET locus.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 760, doi. 10.1038/sj.ejhg.5201036
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- Publication type:
- Article
Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 725, doi. 10.1038/sj.ejhg.5201037
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- Publication type:
- Article
Analysis of the French National Registry of unrelated bone marrow donors, using surnames as a tool for improving geographical localisation of HLA haplotypes.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 794, doi. 10.1038/sj.ejhg.5201038
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- Publication type:
- Article
Anticipation in familial intracranial aneurysms in consecutive generations.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 737, doi. 10.1038/sj.ejhg.5201039
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- Article
From surnames to the history of Y chromosomes: the Sardinian population as a paradigm.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 802, doi. 10.1038/sj.ejhg.5201040
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- Article
DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 812, doi. 10.1038/sj.ejhg.5201041
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- Publication type:
- Article
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 744, doi. 10.1038/sj.ejhg.5201043
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- Publication type:
- Article