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Musante, Luciana
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Preferred name
Musante, Luciana
Main Affiliation
Email
luciana.musante@burlo.trieste.it
ORCID
Scopus Author ID
7004087855
Researcher ID
AAA-5726-2021
Research Output
Now showing 1 - 5 of 5
- PublicationSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
; ; ; ; - PublicationThe Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
; ; ; ; ; ; ; ; ; ; - PublicationChallenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
; ; ; ; ; ; - PublicationTTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
; ; ; ; ; ; ; ; ; ; - PublicationExpanding Phenotype of Poirier¿Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
; ; ;