Publications by authors named "Alberto Budillon"

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Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio

Am J Med Genet A· July 2025

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An atypical Aymé-Gripp phenotype detected by exome sequencing.
Martina Caiazza, Alberto Budillon, Emanuele Monda, Giustina Aruta, Augusto Esposito

Am J Med Genet A· January 2024

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A Novel Homozygous Loss-of-Function Variant in Causes Autosomal Recessive Noonan-like Syndrome.
Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon

Genes (Basel)· December 2023

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A Novel Homozygous Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza

Genes (Basel)· July 2023

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Alu-Mediated Insertions in the Gene: A Difficult Puzzle to Interpret Clinically.
Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Esther Picillo

Int J Mol Sci· May 2023

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