Latest papers

Technical standards and guidelines for myotonic dystrophy type 1 testing.

[Public health genetics--a beautiful new world].

The role of collagen type I α2 polymorphisms: intracranial aneurysms in Koreans

Internet resources in medical genetics.

Good laboratory practices for molecular genetic testing for heritable diseases and conditions.

Screening for Familial Mediterranean Fever M694V and V726A mutations in the Greek population.

Autosomal dominant polycystic kidney disease.

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

[Quantitative pyrosequencing of heterozygous single nucleotide polymorphisms for rapid diagnosis of Down's syndrome]

Current status of the approach to assisted reproduction.

[Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region]

Genetic testing of stored biological samples: views of 570 U.S. workers.

HLA and drug-induced toxicity.

A measure of truth in genetic testing.

[Computational biology strategy for identification of complex disease genes].

Aminoglycoside-induced hearing loss: South Africans at risk.

Identification of patients at high risk of psychological distress after BRCA1 genetic testing.

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.

Newborn screening for genetic disorders.

Spinocerebellar ataxia type 23: a genetic update.