Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Carmela Fusco

Showing results (1-10 of 63) with videos related to

Pageof 7
Sort By:
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
Advances in Experimental Medicine and Biology|November 22, 2021
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum DisordersLucia Micale, Carmela Fusco, 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.
Methods in Molecular Biology (Clifton, N.J.)|June 21, 2022
In Vitro Assays for the Bifunctional Acylpeptide Hydrolase (APEH) Enzyme from Antarctic FishCarmela Fusco, Bruna Agrillo, Marta Gogliettino, et al.
Advances in Experimental Medicine and Biology|May 1, 2013
The tripartite motif: structure and functionLucia Micale, Evelyne Chaignat, Carmela Fusco, 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.
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.
International Journal of Molecular Sciences|January 11, 2022
Oxidized Substrates of APEH as a Tool to Study the Endoprotease Activity of the EnzymeAnnamaria Sandomenico, Marta Gogliettino, Emanuela Iaccarino, et al.
Plos Computational Biology|February 10, 2011
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeCharlotte N Henrichsen, Gábor Csárdi, Marie-Thérèse Zabot, et al.
American Journal of Medical Genetics. Part A|March 18, 2025
Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic MalignanciesFrancesco Comisi, Carmela Fusco, Rosamaria Mura, et al.
Pageof 7

Showing results (1-10 of 63) with videos related to

Sort By:
Pageof 7
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
Advances in Experimental Medicine and Biology|November 22, 2021
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum DisordersLucia Micale, Carmela Fusco, 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.
Methods in Molecular Biology (Clifton, N.J.)|June 21, 2022
In Vitro Assays for the Bifunctional Acylpeptide Hydrolase (APEH) Enzyme from Antarctic FishCarmela Fusco, Bruna Agrillo, Marta Gogliettino, et al.
Advances in Experimental Medicine and Biology|May 1, 2013
The tripartite motif: structure and functionLucia Micale, Evelyne Chaignat, Carmela Fusco, 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.
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.
International Journal of Molecular Sciences|January 11, 2022
Oxidized Substrates of APEH as a Tool to Study the Endoprotease Activity of the EnzymeAnnamaria Sandomenico, Marta Gogliettino, Emanuela Iaccarino, et al.
Plos Computational Biology|February 10, 2011
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeCharlotte N Henrichsen, Gábor Csárdi, Marie-Thérèse Zabot, et al.
American Journal of Medical Genetics. Part A|March 18, 2025
Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic MalignanciesFrancesco Comisi, Carmela Fusco, Rosamaria Mura, et al.
Pageof 7