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Lucia Micale

Showing results (31-40 of 72) with videos related to

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Journal of Human Genetics|March 6, 2024
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorderSilvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, et al.
Cancer Research|March 17, 2019
AQP4 Aggregation State Is a Determinant for Glioma Cell FateLaura Simone, Francesco Pisani, Maria G Mola, et al.
Cellular Signalling|December 7, 2013
HDAC6 mediates the acetylation of TRIM50Carmela Fusco, Lucia Micale, Bartolomeo Augello, et al.
Human Molecular Genetics|September 22, 2020
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosisLucia Micale, Samantha Cialfi, Carmela Fusco, et al.
Clinical Genetics|February 19, 2021
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variantsCarmela Fusco, Grazia Nardella, Antonio Petracca, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisLucia Micale, Maria Giuseppina Turturo, Carmela Fusco, et al.
Cell Death & Disease|August 5, 2023
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophagesAlessandra Romagnoli, Martina Di Rienzo, Elisa Petruccioli, et al.
Molecular Genetics and Metabolism|July 31, 2012
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndromeManuela Priolo, Lucia Micale, Bartolomeo Augello, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traitsCarmela Fusco, Lucia Micale, Bartolomeo Augello, et al.
Genes|December 22, 2020
Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal DysplasiaLucia Micale, Silvia Morlino, Annalisa Schirizzi, et al.
Pageof 8

Showing results (31-40 of 72) with videos related to

Sort By:
Pageof 8
Journal of Human Genetics|March 6, 2024
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorderSilvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, et al.
Cancer Research|March 17, 2019
AQP4 Aggregation State Is a Determinant for Glioma Cell FateLaura Simone, Francesco Pisani, Maria G Mola, et al.
Cellular Signalling|December 7, 2013
HDAC6 mediates the acetylation of TRIM50Carmela Fusco, Lucia Micale, Bartolomeo Augello, et al.
Human Molecular Genetics|September 22, 2020
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosisLucia Micale, Samantha Cialfi, Carmela Fusco, et al.
Clinical Genetics|February 19, 2021
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variantsCarmela Fusco, Grazia Nardella, Antonio Petracca, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisLucia Micale, Maria Giuseppina Turturo, Carmela Fusco, et al.
Cell Death & Disease|August 5, 2023
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophagesAlessandra Romagnoli, Martina Di Rienzo, Elisa Petruccioli, et al.
Molecular Genetics and Metabolism|July 31, 2012
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndromeManuela Priolo, Lucia Micale, Bartolomeo Augello, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traitsCarmela Fusco, Lucia Micale, Bartolomeo Augello, et al.
Genes|December 22, 2020
Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal DysplasiaLucia Micale, Silvia Morlino, Annalisa Schirizzi, et al.
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