Works matching IS 10184813 AND DT 1998 AND VI 6 AND IP 4
Results: 18
Genetic diversity in Northern Spain (Basque Country and Cantabria): GM and KM variation related to demographic histories.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200186
- By:
- Publication type:
- Article
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 325, doi. 10.1038/sj.ejhg.5200189
- By:
- Publication type:
- Article
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 308, doi. 10.1038/sj.ejhg.5200190
- By:
- Publication type:
- Article
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 345, doi. 10.1038/sj.ejhg.5200191
- By:
- Publication type:
- Article
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 331, doi. 10.1038/sj.ejhg.5200194
- By:
- Publication type:
- Article
Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 400, doi. 10.1038/sj.ejhg.5200196
- By:
- Publication type:
- Article
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 396, doi. 10.1038/sj.ejhg.5200197
- By:
- Publication type:
- Article
Isolation of a novel human voltage-dependent anion channel gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 337, doi. 10.1038/sj.ejhg.5200198
- By:
- Publication type:
- Article
Asynchronous replication of allelic loci in Down syndrome.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 359, doi. 10.1038/sj.ejhg.5200199
- By:
- Publication type:
- Article
Crossing over analysis at pachytene in man.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 350, doi. 10.1038/sj.ejhg.5200200
- By:
- Publication type:
- Article
A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 341, doi. 10.1038/sj.ejhg.5200201
- By:
- Publication type:
- Article
mtDNA analysis of the Galician population: a genetic edge of European variation.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 365, doi. 10.1038/sj.ejhg.5200202
- By:
- Publication type:
- Article
A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 406, doi. 10.1038/sj.ejhg.5200203
- By:
- Publication type:
- Article
Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 297
- By:
- Publication type:
- Article
Educational material on genetics for schools: ‘The Science behind the Jeans for Genes Day’.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 413, doi. 10.1038/sj.ejhg.5200214
- By:
- Publication type:
- Article
Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 383, doi. 10.1038/sj.ejhg.5200227
- By:
- Publication type:
- Article
Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 376, doi. 10.1038/sj.ejhg.5200229
- By:
- Publication type:
- Article
Erratum.
- Published in:
- 1998
- Publication type:
- Correction Notice