Genetic syndrome
- Retrospective analysis of 187,628 expanded carrier screens shows unexpected ethnic distribution of carrier states
- A clinical report case of Smith–Lemli–Opitz syndrome
- A case of Meckel-Gruber Syndrome
- A case of Fraser syndrome
- Two cases of pregnant women with Bartter´s syndrome
- The relationship of the defective gene GJB2 and early euploid pregnancy losses
- A case of Joubert syndrome
- A variant case of meckel gruber syndrome in a couple with a history of Sandhoff disease
- Two consecutive Meckel-Gruber syndromes: What´s the odds?
- A case of obstructed hemivagina and ipsilateral renal anomaly syndrome (OHVIRA) with a single uterus
- First trimester sonographic findings of Nager syndrome with heterozygous mutations in the SF3b4 gene
- A case of a first‐trimester diagnosis of Meckel–Gruber syndrome
- Antenatal diagnosis of Fanconi's anaemia in fetus with upper limb abnormality
- A case of 6p 24 deletion syndrome (OMIM #612582)
- Dilemmas in interpretation and phenotype prediction for prenatal detection of 10q22q23 duplications
- PHENOTIP – a novel web-based tool for improving prenatal diagnostic accuracy of syndromes
- A novel mutated sequence in Tbx-5 gene, Exon-3, repetitive Holt-Oram syndrome