Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 7
Results: 14
Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 480, doi. 10.1038/sj.ejhg.5200443
- By:
- Publication type:
- Article
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200476
- By:
- Publication type:
- Article
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 557, doi. 10.1038/sj.ejhg.5200477
- By:
- Publication type:
- Article
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 493, doi. 10.1038/sj.ejhg.5200479
- By:
- Publication type:
- Article
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 487, doi. 10.1038/sj.ejhg.5200484
- By:
- Publication type:
- Article
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 535, doi. 10.1038/sj.ejhg.5200485
- By:
- Publication type:
- Article
Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 540, doi. 10.1038/sj.ejhg.5200486
- By:
- Publication type:
- Article
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 552, doi. 10.1038/sj.ejhg.5200488
- By:
- Publication type:
- Article
Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 507, doi. 10.1038/sj.ejhg.5200490
- By:
- Publication type:
- Article
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 500, doi. 10.1038/sj.ejhg.5200491
- By:
- Publication type:
- Article
Molecular basis of hereditary pancreatitis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200492
- By:
- Publication type:
- Article
Pedigree tests of transmission disequilibrium.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 545, doi. 10.1038/sj.ejhg.5200494
- By:
- Publication type:
- Article
Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 513, doi. 10.1038/sj.ejhg.5200496
- By:
- Publication type:
- Article
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200498
- By:
- Publication type:
- Article