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

Roberta Pietrobono

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
European Journal of Human Genetics : EJHG|December 6, 2019
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivationElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
Genes|March 1, 2020
Reversion to Normal of <i>FMR1</i> Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome FamiliesElisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, et al.
Journal of Medical Microbiology|December 6, 2002
Recombinant GroES in combination with CpG oligodeoxynucleotides protects mice against Mycobacterium avium infectionLanfranco Fattorini, Roberta Creti, Roberto Nisini, et al.
Genes|May 4, 2026
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory DisordersBeatrice Rosa, Elisabetta Tabolacci, Roberta Pietrobono, et al.
Journal of Neurology|December 25, 2012
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansionsMassimo Santoro, Marcella Masciullo, Roberta Pietrobono, et al.
European Journal of Human Genetics : EJHG|March 21, 2013
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11pFiorella Gurrieri, Marcella Zollino, Antonio Oliva, et al.
European Journal of Medical Genetics|July 15, 2026
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literatureGiulia Lauretti, Roberta Pietrobono, Benedetta Niccolini, et al.
Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Genes|July 27, 2022
Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant PhenotypeFilomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|December 6, 2019
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivationElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
Genes|March 1, 2020
Reversion to Normal of <i>FMR1</i> Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome FamiliesElisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, et al.
Journal of Medical Microbiology|December 6, 2002
Recombinant GroES in combination with CpG oligodeoxynucleotides protects mice against Mycobacterium avium infectionLanfranco Fattorini, Roberta Creti, Roberto Nisini, et al.
Genes|May 4, 2026
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory DisordersBeatrice Rosa, Elisabetta Tabolacci, Roberta Pietrobono, et al.
Journal of Neurology|December 25, 2012
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansionsMassimo Santoro, Marcella Masciullo, Roberta Pietrobono, et al.
European Journal of Human Genetics : EJHG|March 21, 2013
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11pFiorella Gurrieri, Marcella Zollino, Antonio Oliva, et al.
European Journal of Medical Genetics|July 15, 2026
Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literatureGiulia Lauretti, Roberta Pietrobono, Benedetta Niccolini, et al.
Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Genes|July 27, 2022
Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant PhenotypeFilomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, et al.
Pageof 3