Daniele De Brasi

Naples, Italy

Last Updated: 09/26/2026

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Found 31 publications

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Journal: Clinical genetics

Published: April 23, 2026

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature.

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: October 30, 2025

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.

Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.

Journal: Children (Basel, Switzerland)

Published: October 30, 2025

Acute Otomastoiditis in Children: An Observational Study on the Role of Mastoid Morphology in the Development of Intracranial Complications.

Acute Otomastoiditis in Children: An Observational Study on the Role of Mastoid Morphology in the Development of Intracranial Complications.

Journal: Journal of clinical medicine

Published: August 07, 2025

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Journal: International journal of molecular sciences

Published: July 16, 2025

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.

Journal: Children (Basel, Switzerland)

Published: October 10, 2024

Correction: Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

Correction: Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: September 23, 2024

Syphilitic hepatitis in infants, the forgotten disease that hepatologists have to brush up on: from a case series to a revision of literature.

Syphilitic hepatitis in infants, the forgotten disease that hepatologists have to brush up on: from a case series to a revision of literature.

Journal: European journal of pediatrics

Published: April 25, 2024

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Journal: Biomedicines

Published: April 03, 2024

Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: October 24, 2023

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Journal: Frontiers in cell and developmental biology

Published: June 09, 2023

Showing 1-12 of 31

Last Updated: 09/26/2026