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Maria Piccione

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Genome Medicine|February 19, 2026

A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.

Clinical Genetics|February 19, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.

HGG Advances|January 20, 2022

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.

Human Mutation|July 29, 2022

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.

Pageof 8

Search research articles

Showing results (71-80 of 74) with videos related to

Sort By:

Pageof 8

You have reached the last page of results.This site can display upto 74 results.

Genome Medicine|February 19, 2026

A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.

Clinical Genetics|February 19, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.

HGG Advances|January 20, 2022

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.

Human Mutation|July 29, 2022

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.

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