Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 5
Results: 17
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 407, doi. 10.1038/sj.ejhg.5201138
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- Article
Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 343, doi. 10.1038/sj.ejhg.5201158
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- Article
Association between COL1A1 gene polymorphisms and bone size in Caucasians.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 383, doi. 10.1038/sj.ejhg.5201152
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- Article
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 415, doi. 10.1038/sj.ejhg.5201155
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- Article
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 355, doi. 10.1038/sj.ejhg.5201156
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- Article
Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 365, doi. 10.1038/sj.ejhg.5201157
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- Article
Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 377, doi. 10.1038/sj.ejhg.5201149
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- Article
Ciliary neurotrophic factor (CNTF) genotype and body composition.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 372, doi. 10.1038/sj.ejhg.5201159
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- Article
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 389, doi. 10.1038/sj.ejhg.5201161
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- Article
Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 347, doi. 10.1038/sj.ejhg.5201162
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- Article
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 400, doi. 10.1038/sj.ejhg.5201163
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- Article
Detection of genotyping errors by Hardy-Weinberg equilibrium testing.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 395, doi. 10.1038/sj.ejhg.5201164
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- Article
Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168
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- Article
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 419, doi. 10.1038/sj.ejhg.5201169
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- Article
Hereditary hemochromatosis: Is the gene race over?
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 341, doi. 10.1038/sj.ejhg.5201176
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- Article
Professor Robin Michael Winter: 1950-2004. An appreciation.
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- 2004
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- Obituary
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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- 2004
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- Correction Notice