Nicola Brunetti-Pierri
University of Naples Federico II
12 papers found
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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
UploadTEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Download from doi.orgLiver‐directed gene therapy for ornithine aminotransferase deficiency
Download from doi.orgAlpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder
UploadDe Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
UploadClinical and functional consequences of C-terminal variants in MCT8: a case series
UploadRubinstein–Taybi syndrome in diverse populations
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