BRUNO, LUCIA PIA

BRUNO, LUCIA PIA  

DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)  

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Titolo Tipologia Data di pubblicazione Autori File
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations 01 - Articolo su rivista 2021 Bruno LPMencarelli MAFava F +
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435) 99 - Altro 2021 Bruno L. P. +
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes 01 - Articolo su rivista 2021 Bruno L. P. +
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing 01 - Articolo su rivista 2021 Bruno L. P. +
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 01 - Articolo su rivista 2022 Bruno L. P. +
Natural history of KBG syndrome in a large European cohort 01 - Articolo su rivista 2022 Bruno, Lucia Pia +
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay 01 - Articolo su rivista 2022 Lucia Pia Bruno +
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 01 - Articolo su rivista 2023 Bruno, LP +