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Lucia Micale

Showing results (1-10 of 72) with videos related to

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Advances in Experimental Medicine and Biology|November 22, 2021
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum DisordersLucia Micale, Carmela Fusco, Marco Castori
Human Mutation|April 15, 2020
Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 geneCarmela Fusco, Lucia Micale, Marco Castori
Human Genetics|May 4, 2010
Copy number variants at Williams-Beuren syndrome 7q11.23 regionGiuseppe Merla, Nicola Brunetti-Pierri, Lucia Micale, et al.
Advances in Experimental Medicine and Biology|May 1, 2013
The tripartite motif: structure and functionLucia Micale, Evelyne Chaignat, Carmela Fusco, et al.
Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.
Genes|June 13, 2019
Characterization of Two Novel Intronic Variants Affecting <i>Splicing</i> in <i>FBN1</i>-Related DisordersCarmela Fusco, Silvia Morlino, Lucia Micale, et al.
Circulation. Cardiovascular Genetics|December 20, 2012
Supravalvular aortic stenosis: elastin arteriopathyGiuseppe Merla, Nicola Brunetti-Pierri, Pasquale Piccolo, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Review of clinical and molecular variability in autosomal recessive cutis laxa 2ASilvia Morlino, Grazia Nardella, Stefano Castellana, et al.
Oncotarget|July 8, 2016
miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotypeStefania Tommasi, Rosamaria Pinto, Katia Danza, et al.
American Journal of Medical Genetics. Part A|August 13, 2025
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian FamilyMario Benvenuto, Dora Varvara, Massimo Carella, et al.
Pageof 8

Showing results (1-10 of 72) with videos related to

Sort By:
Pageof 8
Advances in Experimental Medicine and Biology|November 22, 2021
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum DisordersLucia Micale, Carmela Fusco, Marco Castori
Human Mutation|April 15, 2020
Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 geneCarmela Fusco, Lucia Micale, Marco Castori
Human Genetics|May 4, 2010
Copy number variants at Williams-Beuren syndrome 7q11.23 regionGiuseppe Merla, Nicola Brunetti-Pierri, Lucia Micale, et al.
Advances in Experimental Medicine and Biology|May 1, 2013
The tripartite motif: structure and functionLucia Micale, Evelyne Chaignat, Carmela Fusco, et al.
Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.
Genes|June 13, 2019
Characterization of Two Novel Intronic Variants Affecting <i>Splicing</i> in <i>FBN1</i>-Related DisordersCarmela Fusco, Silvia Morlino, Lucia Micale, et al.
Circulation. Cardiovascular Genetics|December 20, 2012
Supravalvular aortic stenosis: elastin arteriopathyGiuseppe Merla, Nicola Brunetti-Pierri, Pasquale Piccolo, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Review of clinical and molecular variability in autosomal recessive cutis laxa 2ASilvia Morlino, Grazia Nardella, Stefano Castellana, et al.
Oncotarget|July 8, 2016
miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotypeStefania Tommasi, Rosamaria Pinto, Katia Danza, et al.
American Journal of Medical Genetics. Part A|August 13, 2025
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian FamilyMario Benvenuto, Dora Varvara, Massimo Carella, et al.
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