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Circulation. Cardiovascular Genetics
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September 1, 2014
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study
Francesca Girolami, Maria Iascone, Benedetta Tomberli, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2022
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
Francesco Saettini, Grazia Fazio, Maria Teresa Bonati, et al.
Genes
|
November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations
Camilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
Molecular Genetics & Genomic Medicine
|
January 17, 2020
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, et al.
The Journal of Experimental Medicine
|
April 16, 2014
Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties
Marc Descatoire, Sandra Weller, Sabine Irtan, et al.
Cell Death Discovery
|
February 18, 2021
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Paolo Grazioli, Chiara Parodi, Milena Mariani, et al.
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.
Journal of Neurology
|
October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxia
Claire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
European Journal of Human Genetics : EJHG
|
May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Erika Della Mina, Roberto Ciccone, Francesca Brustia, 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 Center
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.
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Search research articles
Search
Showing results (101-110 of 178) with videos related to
Sort By:
Page
of 18
Circulation. Cardiovascular Genetics
|
September 1, 2014
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study
Francesca Girolami, Maria Iascone, Benedetta Tomberli, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2022
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
Francesco Saettini, Grazia Fazio, Maria Teresa Bonati, et al.
Genes
|
November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations
Camilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
Molecular Genetics & Genomic Medicine
|
January 17, 2020
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, et al.
The Journal of Experimental Medicine
|
April 16, 2014
Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties
Marc Descatoire, Sandra Weller, Sabine Irtan, et al.
Cell Death Discovery
|
February 18, 2021
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Paolo Grazioli, Chiara Parodi, Milena Mariani, et al.
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.
Journal of Neurology
|
October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxia
Claire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
European Journal of Human Genetics : EJHG
|
May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Erika Della Mina, Roberto Ciccone, Francesca Brustia, 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 Center
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.
Page
of 18