Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE: Genética

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Recent Submissions

MEGDEL Syndrome: Expanding the Phenotype and New Mutations

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyria

Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric Manifestations

Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality Defects

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