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Giuseppe Merla

Showing results (111-120 of 129) with videos related to

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Journal of the American Heart Association|January 31, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren SyndromeDelong Liu, Charles J Billington, Neelam Raja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.
American Journal of Human Genetics|September 3, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Pageof 13

Showing results (111-120 of 129) with videos related to

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Pageof 13
Journal of the American Heart Association|January 31, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren SyndromeDelong Liu, Charles J Billington, Neelam Raja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with <i>KAT6A</i>/<i>KAT6B</i> variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.
American Journal of Human Genetics|September 3, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Pageof 13