Found: 17
Select item for more details and to access through your institution.
A molecular approach to dominance in hypophosphatasia.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 99, doi. 10.1007/s004390100546
- By:
- Publication type:
- Article
"Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 85, doi. 10.1007/s004390100535
- By:
- Publication type:
- Article
Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 7, doi. 10.1007/s004390100523
- By:
- Publication type:
- Article
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 48, doi. 10.1007/s004390100536
- By:
- Publication type:
- Article
Nomenclature for the description of human sequence variations.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 121, doi. 10.1007/s004390100505
- By:
- Publication type:
- Article
Chimpanzee apolipoprotein H (β<sub>2</sub>-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 63, doi. 10.1007/s004390100549
- By:
- Publication type:
- Article
Frequency of replication/transcription errors in (A)/(T) runs of human genes.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 40, doi. 10.1007/s004390100541
- By:
- Publication type:
- Article
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 33, doi. 10.1007/s004390100538
- By:
- Publication type:
- Article
Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 109, doi. 10.1007/s004390100543
- By:
- Publication type:
- Article
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 24, doi. 10.1007/s004390100531
- By:
- Publication type:
- Article
Population-based risk estimates of Wilms tumor in sporadic aniridia: A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 11, doi. 10.1007/s004390100529
- By:
- Publication type:
- Article
A polymorphism in the promoter region of catalase is associated with blood pressure levels.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 95, doi. 10.1007/s004390100553
- By:
- Publication type:
- Article
Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 73, doi. 10.1007/s004390100547
- By:
- Publication type:
- Article
Glycerol kinase deficiency: Evidence for complexity in a single gene disorder.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 55, doi. 10.1007/s004390100545
- By:
- Publication type:
- Article
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 19, doi. 10.1007/s004390100554
- By:
- Publication type:
- Article
Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 117, doi. 10.1007/s004390100540
- By:
- Publication type:
- Article
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 1, doi. 10.1007/s004390100537
- By:
- Publication type:
- Article