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Lidia Pezzani

Showing results (31-40 of 38) with videos related to

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American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
Clinical Genetics|November 2, 2025
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level CenterGiulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.
Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.
Journal of Cardiovascular Development and Disease|January 20, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family ManagementLaura Pezzoli, Lidia Pezzani, Ezio Bonanomi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Nature Genetics|March 28, 2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancerCatherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
Clinical Genetics|November 2, 2025
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level CenterGiulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.
Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.
Journal of Cardiovascular Development and Disease|January 20, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family ManagementLaura Pezzoli, Lidia Pezzani, Ezio Bonanomi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Nature Genetics|March 28, 2017
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancerCatherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, et al.
Pageof 4