Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 3
Results: 12
A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 263, doi. 10.1007/s00439-002-0773-8
- By:
- Publication type:
- Article
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 247, doi. 10.1007/s00439-002-0788-1
- By:
- Publication type:
- Article
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 290, doi. 10.1007/s00439-002-0787-2
- By:
- Publication type:
- Article
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 255, doi. 10.1007/s00439-002-0755-x
- By:
- Publication type:
- Article
A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter).
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 242, doi. 10.1007/s00439-002-0767-6
- By:
- Publication type:
- Article
Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 299, doi. 10.1007/s00439-002-0779-2
- By:
- Publication type:
- Article
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 284, doi. 10.1007/s00439-002-0789-0
- By:
- Publication type:
- Article
Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 297, doi. 10.1007/s00439-002-0764-9
- By:
- Publication type:
- Article
Complex segregation analysis of hypospadias.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 231, doi. 10.1007/s00439-002-0799-y
- By:
- Publication type:
- Article
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 278, doi. 10.1007/s00439-002-0772-9
- By:
- Publication type:
- Article
A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 270, doi. 10.1007/s00439-002-0801-8
- By:
- Publication type:
- Article
Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6
- By:
- Publication type:
- Article