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Trisomy 21 and Rett syndrome: a double burden.

Publication

Refining the phenotype of common mutations in Rett syndrome.

Publication

Perimortem laboratory investigation of genetic metabolic disorders.

Publication

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Publication

Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants.

Publication

Gene symbol: ATP7A. Disease: Menkes disease.

Publication

Fast and slow parietal pathways mediate spatial attention.

Publication

Exercise echocardiography reflects cumulative anthracycline exposure during childhood.

Publication

Enlarged temporal lobes in Turner syndrome: an X-chromosome effect?

Publication

Clinical progression and outcome of dysphagia following paediatric traumatic brain injury: a prospective study.