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

Orsetta Zuffardi

Showing results (41-50 of 222) with videos related to

Pageof 23
Sort By:
Prenatal Diagnosis|November 15, 2008
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogeneticsAnnalisa Vetro, Angela Iasci, Barbara Dal Bello, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromesStefania Gimelli, Jacqueline Chrast, Anwar Baban, et al.
American Journal of Medical Genetics. Part A|March 17, 2009
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?Cinzia Magnani, Salvatore Antonio Tedesco, Sara Dallaglio, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 15, 2009
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genesIlaria Carboni, Elena Andreucci, Maria R Caruso, et al.
Journal of Clinical Medicine|July 27, 2022
Non-Invasive Detection of a De Novo Frameshift Variant of <i>STAG2</i> in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in FemalesAldesia Provenzano, Andrea La Barbera, Francesco Lai, et al.
Journal of Medical Genetics|October 4, 2007
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndromeDaniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.
Human Genetics|February 1, 2007
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesisFlavio Rizzolio, Cinzia Sala, Simone Alboresi, et al.
Plos One|December 17, 2016
A Data Fusion Approach to Enhance Association Study in EpilepsySimone Marini, Ivan Limongelli, Ettore Rizzo, et al.
Diagnostics (Basel, Switzerland)|October 23, 2021
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver DisorderAldesia Provenzano, Antonio Farina, Anna Seidenari, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 28, 2013
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathyMassimo Mastrangelo, Angela Peron, Luigina Spaccini, et al.
Pageof 23

Showing results (41-50 of 222) with videos related to

Sort By:
Pageof 23
Prenatal Diagnosis|November 15, 2008
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogeneticsAnnalisa Vetro, Angela Iasci, Barbara Dal Bello, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromesStefania Gimelli, Jacqueline Chrast, Anwar Baban, et al.
American Journal of Medical Genetics. Part A|March 17, 2009
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?Cinzia Magnani, Salvatore Antonio Tedesco, Sara Dallaglio, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 15, 2009
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genesIlaria Carboni, Elena Andreucci, Maria R Caruso, et al.
Journal of Clinical Medicine|July 27, 2022
Non-Invasive Detection of a De Novo Frameshift Variant of <i>STAG2</i> in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in FemalesAldesia Provenzano, Andrea La Barbera, Francesco Lai, et al.
Journal of Medical Genetics|October 4, 2007
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndromeDaniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.
Human Genetics|February 1, 2007
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesisFlavio Rizzolio, Cinzia Sala, Simone Alboresi, et al.
Plos One|December 17, 2016
A Data Fusion Approach to Enhance Association Study in EpilepsySimone Marini, Ivan Limongelli, Ettore Rizzo, et al.
Diagnostics (Basel, Switzerland)|October 23, 2021
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver DisorderAldesia Provenzano, Antonio Farina, Anna Seidenari, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 28, 2013
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathyMassimo Mastrangelo, Angela Peron, Luigina Spaccini, et al.
Pageof 23