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La Bianca , Martina
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Preferred name
La Bianca , Martina
Main Affiliation
Email
martina.labianca@burlo.trieste.it
ORCID
Scopus Author ID
56084713100
Research Output
Now showing 1 - 5 of 5
- PublicationGNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
; ; ; ; ; ; ; ; ; - PublicationThe Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
; ; ; ; ; ; ; ; ; ; - PublicationThere Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
; ; ; ; ; - PublicationTTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
; ; ; ; ; ; ; ; ; ; - PublicationThings come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
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