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Luca Colantoni

Showing results (11-20 of 17) with videos related to

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Clinical Genetics|August 11, 2025
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy CasesFrancesca Torri, Claudia Strafella, Liliana Vercelli, et al.
Cells|December 23, 2022
<i>D4Z4</i> Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD PatientsValerio Caputo, Domenica Megalizzi, Carlo Fabrizio, et al.
Human Molecular Genetics|October 11, 2019
The variability of SMCHD1 gene in FSHD patients: evidence of new mutationsClaudia Strafella, Valerio Caputo, Rosaria Maria Galota, et al.
Clinical Genetics|December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian familiesClaudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
Frontiers in Neurology|December 15, 2018
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in <i>SMCHD1</i> in a Family With FSHDRaffaella Cascella, Claudia Strafella, Valerio Caputo, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|April 20, 2021
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samplesValerio Caputo, Cristina Bax, Luca Colantoni, et al.
Clinical Epigenetics|October 23, 2024
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patientsClaudia Strafella, Domenica Megalizzi, Giulia Trastulli, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Clinical Genetics|August 11, 2025
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy CasesFrancesca Torri, Claudia Strafella, Liliana Vercelli, et al.
Cells|December 23, 2022
<i>D4Z4</i> Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD PatientsValerio Caputo, Domenica Megalizzi, Carlo Fabrizio, et al.
Human Molecular Genetics|October 11, 2019
The variability of SMCHD1 gene in FSHD patients: evidence of new mutationsClaudia Strafella, Valerio Caputo, Rosaria Maria Galota, et al.
Clinical Genetics|December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian familiesClaudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
Frontiers in Neurology|December 15, 2018
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in <i>SMCHD1</i> in a Family With FSHDRaffaella Cascella, Claudia Strafella, Valerio Caputo, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|April 20, 2021
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samplesValerio Caputo, Cristina Bax, Luca Colantoni, et al.
Clinical Epigenetics|October 23, 2024
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patientsClaudia Strafella, Domenica Megalizzi, Giulia Trastulli, et al.
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