Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 5
Results: 16
Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a “protector” haplotype.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 518, doi. 10.1038/sj.ejhg.5200204
- By:
- Publication type:
- Article
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 527, doi. 10.1038/sj.ejhg.5200205
- By:
- Publication type:
- Article
UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 459, doi. 10.1038/sj.ejhg.5200207
- By:
- Publication type:
- Article
Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 445, doi. 10.1038/sj.ejhg.5200208
- By:
- Publication type:
- Article
Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 430, doi. 10.1038/sj.ejhg.5200209
- By:
- Publication type:
- Article
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 467, doi. 10.1038/sj.ejhg.5200210
- By:
- Publication type:
- Article
Generation of a transcription map distal to HLA-F.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 475, doi. 10.1038/sj.ejhg.5200211
- By:
- Publication type:
- Article
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 432, doi. 10.1038/sj.ejhg.5200212
- By:
- Publication type:
- Article
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 492, doi. 10.1038/sj.ejhg.5200213
- By:
- Publication type:
- Article
A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 523, doi. 10.1038/sj.ejhg.5200216
- By:
- Publication type:
- Article
Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 439, doi. 10.1038/sj.ejhg.5200217
- By:
- Publication type:
- Article
Parallel molecular genetic analysis.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 417, doi. 10.1038/sj.ejhg.5200218
- By:
- Publication type:
- Article
Haplotype and mutation analysis in Greek patients with Wilson disease.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 487, doi. 10.1038/sj.ejhg.5200219
- By:
- Publication type:
- Article
Localisation of a Fanconi anaemia gene to chromosome 9p.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 501, doi. 10.1038/sj.ejhg.5200241
- By:
- Publication type:
- Article
A new candidate region for the positional cloning of the XLP gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 509, doi. 10.1038/sj.ejhg.5200249
- By:
- Publication type:
- Article
Errata.
- Published in:
- 1998
- Publication type:
- Erratum