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Francesca Forzano

Showing results (61-70 of 77) with videos related to

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American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, et al.
European Journal of Human Genetics : EJHG|June 26, 2019
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac deathFlorence Fellmann, Carla G van El, Philippe Charron, et al.
Brain : a Journal of Neurology|March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic careFilomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Journal of Community Genetics|July 1, 2026
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025Angus Clarke, Ruth Horn, Elena Avram, et al.
Human Molecular Genetics|April 16, 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo, Hugo Vega, Alison H Trainer, et al.
Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, et al.
European Journal of Human Genetics : EJHG|June 26, 2019
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac deathFlorence Fellmann, Carla G van El, Philippe Charron, et al.
Brain : a Journal of Neurology|March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic careFilomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.
Clinical Genetics|March 13, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndromeAlistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, et al.
Journal of Community Genetics|July 1, 2026
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025Angus Clarke, Ruth Horn, Elena Avram, et al.
Human Molecular Genetics|April 16, 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo, Hugo Vega, Alison H Trainer, et al.
Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Pageof 8