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Francesca Forzano

Showing results (71-80 of 77) with videos related to

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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.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
Pageof 8

Showing results (71-80 of 77) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 77 results.
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.
JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.
American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
Pageof 8