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

Maria Cristina Digilio

Showing results (41-50 of 232) with videos related to

Pageof 24
Sort By:
Genes|November 27, 2021
SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?Barbara Citoni, Maria Cristina Digilio, Rossella Capolino, et al.
Expert Review of Molecular Diagnostics|July 27, 2017
Congenital heart disease and genetic syndromes: new insights into molecular mechanismsGiulio Calcagni, Marta Unolt, Maria Cristina Digilio, et al.
Genes|July 27, 2022
Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams-Beuren Syndrome: A Longitudinal StudyPaolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, et al.
American Journal of Human Genetics|June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
The Journal of Pediatrics|December 26, 2006
Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndromePaola Cambiaso, Cinzia Orazi, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutationsAdriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, et al.
International Journal of Pediatric Otorhinolaryngology|December 12, 2017
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literaturePier Marco Bianchi, Alessandra Bianchi, Maria Cristina Digilio, et al.
Early Intervention in Psychiatry|October 28, 2014
Indicated prevention with long-chain polyunsaturated omega-3 fatty acids in patients with 22q11DS genetically at high risk for psychosis. Protocol of a randomized, double-blind, placebo-controlled treatment trialMarco Armando, Franco De Crescenzo, Stefano Vicari, et al.
European Journal of Medical Genetics|July 27, 2018
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1Schaida Schirwani, Antonio Novelli, Maria Cristina Digilio, et al.
Journal of Cardiovascular Development and Disease|May 5, 2018
Some Isolated Cardiac Malformations Can Be Related to Laterality DefectsPaolo Versacci, Flaminia Pugnaloni, Maria Cristina Digilio, et al.
Pageof 24

Showing results (41-50 of 232) with videos related to

Sort By:
Pageof 24
Genes|November 27, 2021
SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?Barbara Citoni, Maria Cristina Digilio, Rossella Capolino, et al.
Expert Review of Molecular Diagnostics|July 27, 2017
Congenital heart disease and genetic syndromes: new insights into molecular mechanismsGiulio Calcagni, Marta Unolt, Maria Cristina Digilio, et al.
Genes|July 27, 2022
Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams-Beuren Syndrome: A Longitudinal StudyPaolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, et al.
American Journal of Human Genetics|June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
The Journal of Pediatrics|December 26, 2006
Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndromePaola Cambiaso, Cinzia Orazi, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutationsAdriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, et al.
International Journal of Pediatric Otorhinolaryngology|December 12, 2017
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literaturePier Marco Bianchi, Alessandra Bianchi, Maria Cristina Digilio, et al.
Early Intervention in Psychiatry|October 28, 2014
Indicated prevention with long-chain polyunsaturated omega-3 fatty acids in patients with 22q11DS genetically at high risk for psychosis. Protocol of a randomized, double-blind, placebo-controlled treatment trialMarco Armando, Franco De Crescenzo, Stefano Vicari, et al.
European Journal of Medical Genetics|July 27, 2018
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1Schaida Schirwani, Antonio Novelli, Maria Cristina Digilio, et al.
Journal of Cardiovascular Development and Disease|May 5, 2018
Some Isolated Cardiac Malformations Can Be Related to Laterality DefectsPaolo Versacci, Flaminia Pugnaloni, Maria Cristina Digilio, et al.
Pageof 24