Daniele De Brssi
Department of Pediatrics · AORN Santobono Pausilipon
https://researchid.co/dandebrasi
@santobonopausilipon.it
81Scopus Publications
Research Interests
Clinical Genetics, Medical Genetics, Human Genetics, Pedaitrics
Recent Scopus Publications
- 9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
- 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
- Diagnosis "upon the face": Good the first
- Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study
- Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene
Links
- ORCID https://orcid.org/0000-0002-6079-4063
- Google Scholar https://scholar.google.com/citations?user=fy9ie5iaaaaj
- Scopus https://www.scopus.com/authid/detail.uri?authorId=8151423700