Preface.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 195, doi. 10.1159/000343778
- Publication type:
- Article
Works matching IS 16618769 AND DT 2012 AND VI 3 AND IP 5
Results: 7
1
2
Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 230, doi. 10.1159/000343086
- By:
- Publication type:
- Article
3
Involvement of Patient Organisations in Research and Development of Orphan Drugs for Rare Diseases in Europe.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 237, doi. 10.1159/000342758
- By:
- Publication type:
- Article
4
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 223, doi. 10.1159/000343746
- By:
- Publication type:
- Article
5
Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 215, doi. 10.1159/000343923
- By:
- Publication type:
- Article
6
Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 204, doi. 10.1159/000343487
- By:
- Publication type:
- Article
7
High-Throughput Sequencing and Rare Genetic Diseases.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 5, p. 197, doi. 10.1159/000343941
- By:
- Publication type:
- Article