All Stories

  1. Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies
  2. Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
  3. Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
  4. Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect
  5. Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect
  6. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
  7. A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
  8. Development and validation of a multiplex-PCR assay for X-linked intellectual disability
  9. Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening
  10. FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
  11. The Use of Prealbumin Concentration as a Biomarker of Nutritional Status in Treated Phenylketonuric Patients
  12. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
  13. Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism
  14. The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients
  15. Mutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD Protein
  16. Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.
  17. X-linked adrenoleukodystrophy in patients with idiopathic addison disease
  18. X-linked adrenoleukodystrophy and haemophilia A in the same kindred
  19. Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families