Latest papers

Genetics of stillbirth.

Hereditary acquisitions.

Molecular technology vs clinical practice: a hypothesis in genetics.

The genomic risk of somatic gene therapy.

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.

Chromosomal distribution of disease genes in the human genome.

Erythema palmare hereditarium (Lane's red palms): a forgotten entity?

Higher-order genome organization in human disease.

Biological roles of translin and translin-associated factor-X: RNA metabolism comes to the fore.

Potential implications of genomic medicine in general practice.

Clinico-radiological correlation in childhood hypopituitarism.

Noninvasive prenatal diagnosis in 2020.

[Left ventricular hypertrophy in the cat - when hypertrophic cardiomyopathy is not hypertrophic cardiomyopathy].

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Crystal structure of hereditary vitamin D-resistant rickets--associated mutant H305Q of vitamin D nuclear receptor bound to its natural ligand.

What can we expect from invasive procedures in 10 years time?

King Tutankhamun's family and demise.

[Predictive medicine - clinical genetics 2010].

Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome.

An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.