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Frontiers in Genetics
|
March 21, 2024
Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Genes
|
February 25, 2023
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, et al.
Molecular Genetics & Genomic Medicine
|
March 15, 2019
MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme-based method improving previous protocols
Francesca Antonaros, Giulia Olivucci, Elena Cicchini, et al.
Genes
|
January 26, 2024
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort
Valeria Aiello, Francesca Ciurli, Amalia Conti, et al.
Scientific Reports
|
February 20, 2021
One-carbon pathway and cognitive skills in children with Down syndrome
Francesca Antonaros, Silvia Lanfranchi, Chiara Locatelli, et al.
International Journal of Cardiology
|
January 24, 2025
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy
Samuela Carigi, Giulia Olivucci, Carlotta Pia Cristalli, et al.
Brain : a Journal of Neurology
|
October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Eleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
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Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Frontiers in Genetics
|
March 21, 2024
Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Genes
|
February 25, 2023
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, et al.
Molecular Genetics & Genomic Medicine
|
March 15, 2019
MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme-based method improving previous protocols
Francesca Antonaros, Giulia Olivucci, Elena Cicchini, et al.
Genes
|
January 26, 2024
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort
Valeria Aiello, Francesca Ciurli, Amalia Conti, et al.
Scientific Reports
|
February 20, 2021
One-carbon pathway and cognitive skills in children with Down syndrome
Francesca Antonaros, Silvia Lanfranchi, Chiara Locatelli, et al.
International Journal of Cardiology
|
January 24, 2025
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy
Samuela Carigi, Giulia Olivucci, Carlotta Pia Cristalli, et al.
Brain : a Journal of Neurology
|
October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Eleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Page
of 1