Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 12
Results: 18
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1024, doi. 10.1038/sj.ejhg.5201258
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- Publication type:
- Article
Corneal dystrophies and degenerations: a molecular genetics approach.
- Published in:
- 2004
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- Publication type:
- Book Review
Model-fitting and linkage analysis of sodium-lithium countertransport.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1055, doi. 10.1038/sj.ejhg.5201262
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- Publication type:
- Article
Three consecutive triploidy pregnancies in a woman: genetic predisposition?
- Published in:
- 2004
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- Publication type:
- Letter
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 987, doi. 10.1038/sj.ejhg.5201264
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- Publication type:
- Article
CD40 ligand gene and Kawasaki disease.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1062, doi. 10.1038/sj.ejhg.5201266
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- Publication type:
- Article
Molecular evidence for absence of Y-linkage of the Hairy Ears trait.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1077, doi. 10.1038/sj.ejhg.5201271
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- Publication type:
- Article
Detect and adjust for population stratification in population-based association study using genomic control markers: an application of Affymetrix Genechip<sup>®</sup> Human Mapping 10K array.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1001, doi. 10.1038/sj.ejhg.5201273
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- Publication type:
- Article
An excess of chromosome 1 breakpoints in male infertility.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 993, doi. 10.1038/sj.ejhg.5201263
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- Publication type:
- Article
TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1041, doi. 10.1038/sj.ejhg.5201277
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- Publication type:
- Article
Association of the mitochondrial DNA haplogroup J with longevity is population specific.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1080, doi. 10.1038/sj.ejhg.5201278
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- Publication type:
- Article
New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1007, doi. 10.1038/sj.ejhg.5201291
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- Publication type:
- Article
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280
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- Publication type:
- Article
Huntington's disease, third edition: Oxford monographs on medical genetics.
- Published in:
- 2004
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- Publication type:
- Book Review
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1015, doi. 10.1038/sj.ejhg.5201288
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- Publication type:
- Article
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1033, doi. 10.1038/sj.ejhg.5201289
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- Publication type:
- Article
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1069, doi. 10.1038/sj.ejhg.5201290
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- Publication type:
- Article
The common PPAR-?2 Pro12Ala variant is associated with greater insulin sensitivity.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1050, doi. 10.1038/sj.ejhg.5201283
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- Publication type:
- Article