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

Paolo Balestri

Showing results (51-60 of 62) with videos related to

Pageof 7
Sort By:
European Journal of Medical Genetics|March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone ageVera Uliana, Salvatore Grosso, Maddalena Cioni, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
Journal of Child Neurology|January 19, 2006
Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up studySalvatore Grosso, Emilio Franzoni, Paola Iannetti, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Human Molecular Genetics|May 27, 2005
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFrancesca Mari, Sara Azimonti, Ilaria Bertani, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Epilepsy Research|December 15, 2010
Benign convulsions associated with mild gastroenteritis: a multicenter clinical studyAlberto Verrotti, Giuliana Nanni, Sergio Agostinelli, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Brain & Development|September 25, 2014
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disabilityFrancesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
European Journal of Medical Genetics|March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone ageVera Uliana, Salvatore Grosso, Maddalena Cioni, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
Journal of Child Neurology|January 19, 2006
Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up studySalvatore Grosso, Emilio Franzoni, Paola Iannetti, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Human Molecular Genetics|May 27, 2005
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeFrancesca Mari, Sara Azimonti, Ilaria Bertani, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Epilepsy Research|December 15, 2010
Benign convulsions associated with mild gastroenteritis: a multicenter clinical studyAlberto Verrotti, Giuliana Nanni, Sergio Agostinelli, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Brain & Development|September 25, 2014
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disabilityFrancesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, et al.
Pageof 7