Francesca Del Vecchio Blanco
4PUBLICATIONS
23CO-AUTHORS
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Publications (4)
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|Mar 28, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.Claudia Santoro, Francesca Aiello, Antonella Farina
|May 15, 2023
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.Irene Sambri, Marco Ferniani, Giulia Campostrini
|Jan 26, 2021
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.Maria Elena Onore, Annalaura Torella, Francesco Musacchia
|Aug 03, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.Teresa Giugliano, Claudia Santoro, Annalaura Torella
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Frequent Collaborators
3 joint publications
Giulio Piluso
1 joint publications
Teresa Giugliano
1 joint publications
Mariarosa Anna Beatrice Melone
1 joint publications
Vincenzo Piccolo
1 joint publications
Vincenzo Nigro
1 joint publications
Francesco Musacchia
1 joint publications
Mariateresa Zanobio
1 joint publications
Irene Sambri
1 joint publications
Marco Ferniani
1 joint publications
Giulia Campostrini
