Mitochondrial DNA disorders.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S219, doi. 10.1007/PL00014407
- By:
- Publication type:
- Article
Works matching IS 03406199 AND DT 2000 AND VI 159 AND IP 15
Results: 18
1
2
Human genetics in health care.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S170, doi. 10.1007/PL00014397
- By:
- Publication type:
- Article
3
Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S186, doi. 10.1007/PL00014400
- By:
- Publication type:
- Article
4
Mutation analysis in metabolic disease - change in clinical practice?
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S169, doi. 10.1007/PL00014398
- By:
- Publication type:
- Article
5
Inherited ion channel disorders.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S199, doi. 10.1007/PL00014403
- By:
- Publication type:
- Article
6
Disease-causing mutations in the human genome.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S173, doi. 10.1007/PL00014395
- By:
- Publication type:
- Article
7
Bridging the gap between molecular genetics and metabolic medicine: access to genetic information.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S183
- By:
- Publication type:
- Article
8
Methods in clinical molecular genetics.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S179, doi. 10.1007/PL00014396
- By:
- Publication type:
- Article
9
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine β-synthase and 5,10-methylenetetrahydrofolate reductase.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S208, doi. 10.1007/PL00014405
- By:
- Publication type:
- Article
10
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S213, doi. 10.1007/PL00014406
- By:
- Publication type:
- Article
11
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S192, doi. 10.1007/PL00014401
- By:
- Publication type:
- Article
12
The molecular basis of ornithine transcarbamylase deficiency.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S196, doi. 10.1007/PL00014402
- By:
- Publication type:
- Article
13
Nuclear genes and oxidative phosphorylation disorders: a review.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S227, doi. 10.1007/PL00014408
- By:
- Publication type:
- Article
14
Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S204, doi. 10.1007/PL00014404
- By:
- Publication type:
- Article
15
Hereditary deafness: lessons for developmental studies and genetic diagnosis.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S232, doi. 10.1007/PL00014409
- By:
- Publication type:
- Article
16
Mutation analysis in metabolic (and other genetic) disease: how soon, how useful.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S243, doi. 10.1007/PL00014412
- By:
- Publication type:
- Article
17
Organelle disease: peroxisomal disorders.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S236, doi. 10.1007/PL00014410
- By:
- Publication type:
- Article
18
What has happened to gene therapy?
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S240, doi. 10.1007/PL00014411
- By:
- Publication type:
- Article