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Anna Cereda

Showing results (31-40 of 55) with videos related to

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American Journal of Medical Genetics. Part A|July 11, 2020
Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrumBarbara Parma, Paola Cianci, Valentina Decimi, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathyLidia Pezzani, Daniela Marchetti, Anna Cereda, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndromeAngelo Selicorni, Anna Maria Colli, Alice Passarini, et al.
Journal of Cellular Physiology|July 25, 2015
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of CohesinopathiesGrazia Fazio, Carles Gaston-Massuet, Laura Rachele Bettini, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matterSilvia Castiglioni, Laura Pezzoli, Lidia Pezzani, 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.
Cell Death Discovery|February 18, 2021
Lithium as a possible therapeutic strategy for Cornelia de Lange syndromePaolo Grazioli, Chiara Parodi, Milena Mariani, 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.
American Journal of Medical Genetics. Part A|October 18, 2022
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patientsCecilia Ghisleni, Barbara Parma, Paola Cianci, 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.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|July 11, 2020
Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrumBarbara Parma, Paola Cianci, Valentina Decimi, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathyLidia Pezzani, Daniela Marchetti, Anna Cereda, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndromeAngelo Selicorni, Anna Maria Colli, Alice Passarini, et al.
Journal of Cellular Physiology|July 25, 2015
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of CohesinopathiesGrazia Fazio, Carles Gaston-Massuet, Laura Rachele Bettini, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matterSilvia Castiglioni, Laura Pezzoli, Lidia Pezzani, 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.
Cell Death Discovery|February 18, 2021
Lithium as a possible therapeutic strategy for Cornelia de Lange syndromePaolo Grazioli, Chiara Parodi, Milena Mariani, 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.
American Journal of Medical Genetics. Part A|October 18, 2022
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patientsCecilia Ghisleni, Barbara Parma, Paola Cianci, 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.
Pageof 6