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Publication

A population-based approach to the investigation of osteopenia in Rett syndrome.

Publication

Rett syndrome: clinical update and review of recent genetic advances.

Publication

Flow cytometry in the study of mitochondrial respiratory chain disorders.

Publication

Clinical approach to inborn errors of metabolism presenting in the newborn period.

Publication

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.

Publication

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Publication

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Publication

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Publication

Seizures in Rett syndrome: an overview from a one-year calendar study.

Publication

The regulation of testicular descent and the effects of cryptorchidism.