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Andrea Gazzin

Showing results (11-20 of 25) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 10, 2023
Adult experiences in Beckwith-Wiedemann syndromeWilliam A Drust, Alessandro Mussa, Andrea Gazzin, et al.
Journal of Medical Genetics|January 27, 2025
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowthAndrea Gazzin, Giuseppe Reynolds, Stefania Massuras, et al.
Genes, Chromosomes & Cancer|January 28, 2025
Novel PDGFRB Gene Fusions in Two Cases of Infantile MyofibromatosisFederica Boccia, Sabina Barresi, Silvia Vallese, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)Giuseppe Reynolds, Simona Cardaropoli, Diana Carli, et al.
Genes|December 23, 2023
Work-Up and Treatment Strategies for Individuals with <i>PIK3CA</i>-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS AssociationAndrea Gazzin, Chiara Leoni, Germana Viscogliosi, et al.
Frontiers in Immunology|December 20, 2023
Mulibrey nanism and immunological complications: a comprehensive case report and literature reviewAndrea Gazzin, Francesca Pala, Marita Bosticardo, et al.
Cancers|December 17, 2024
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann SpectrumDiana Carli, Federico Rondot, Maria Luca, et al.
The Journal of Pediatrics|June 30, 2024
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in ChildhoodSimone Bellucca, Diana Carli, Andrea Gazzin, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locusFederica Maria Valente, Angela Sparago, Andrea Freschi, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 10, 2023
Adult experiences in Beckwith-Wiedemann syndromeWilliam A Drust, Alessandro Mussa, Andrea Gazzin, et al.
Journal of Medical Genetics|January 27, 2025
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowthAndrea Gazzin, Giuseppe Reynolds, Stefania Massuras, et al.
Genes, Chromosomes & Cancer|January 28, 2025
Novel PDGFRB Gene Fusions in Two Cases of Infantile MyofibromatosisFederica Boccia, Sabina Barresi, Silvia Vallese, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)Giuseppe Reynolds, Simona Cardaropoli, Diana Carli, et al.
Genes|December 23, 2023
Work-Up and Treatment Strategies for Individuals with <i>PIK3CA</i>-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS AssociationAndrea Gazzin, Chiara Leoni, Germana Viscogliosi, et al.
Frontiers in Immunology|December 20, 2023
Mulibrey nanism and immunological complications: a comprehensive case report and literature reviewAndrea Gazzin, Francesca Pala, Marita Bosticardo, et al.
Cancers|December 17, 2024
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann SpectrumDiana Carli, Federico Rondot, Maria Luca, et al.
The Journal of Pediatrics|June 30, 2024
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in ChildhoodSimone Bellucca, Diana Carli, Andrea Gazzin, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locusFederica Maria Valente, Angela Sparago, Andrea Freschi, et al.
Pageof 3