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Risk Analysis : an Official Publication of the Society for Risk Analysis|July 31, 2026
Risk Assessment Models for Heated Tobacco ProductsLucia Maddalena, Beril Yildiz, Francesca Del Vecchio Blanco, et al.
Hematology (Amsterdam, Netherlands)|April 15, 2016
Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)(0)-thalassemiaGiovanna Cardiero, Romeo Prezioso, Sabrina Dembech, et al.
Frontiers in Pediatrics|December 3, 2021
Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal InsufficiencyFabiola Di Dato, Donatella Capalbo, Rita Mirra, et al.
American Journal of Medical Genetics. Part A|December 29, 2017
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicismTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.
International Journal of Molecular Sciences|June 10, 2023
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret ClinicallyAnnalaura Torella, Alberto Budillon, Mariateresa Zanobio, et al.
Genes|January 26, 2021
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene RearrangementMaria Elena Onore, Annalaura Torella, Francesco Musacchia, et al.
Kidney & Blood Pressure Research|June 26, 2025
Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient CareFloriana Secondulfo, Francesca Del Vecchio Blanco, Giovanna Capolongo, et al.
The Journal of Molecular Diagnostics : JMD|December 5, 2009
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatographyAnnalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, et al.
Plos One|August 20, 2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD geneAnnalaura Torella, Mariateresa Zanobio, Roberta Zeuli, et al.
American Journal of Medical Genetics. Part A|September 15, 2023
An atypical Aymé-Gripp phenotype detected by exome sequencingMartina Caiazza, Alberto Budillon, Emanuele Monda, et al.
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