Options
Bruno, Irene
Loading...
Preferred name
Bruno, Irene
Main Affiliation
Email
irene.bruno@burlo.trieste.it
ORCID
Scopus Author ID
7003982567
Research Output
Now showing 1 - 10 of 10
- PublicationJuvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young children
; ; ; ; - PublicationHeterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
; ; - PublicationUlnar Pseudarthrosis in a Child with Type 1 Neurofibromatosis
; ; - Publication
- PublicationFrom Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
; ; Fabio Sirchia - PublicationPrevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
; - PublicationExpanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
; - PublicationNatural history of KBG syndrome in a large European cohort
; - PublicationCharacterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib
; ; ; ; ; ;