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

Livia Garavelli

Showing results (51-60 of 156) with videos related to

Pageof 16
Sort By:
American Journal of Medical Genetics. Part A|August 6, 2025
Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3: A Case Report and a Brief Review of the LiteratureGiulia Pisanò, Carlo Alberto Cesaroni, Susanna Rizzi, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTSJohannes G Dauwerse, Martine van Belzen, Arie van Haeringen, et al.
Neurogenetics|April 23, 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literatureCarlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
Bioelectromagnetics|July 25, 2012
Maternal exposure to magnetic fields from high-voltage power lines and the risk of birth defectsCarlotta Malagoli, Catherine M Crespi, Rossella Rodolfi, et al.
Orphanet Journal of Rare Diseases|April 17, 2013
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Chiara Dordoni, Marina Venturini, et al.
American Journal of Medical Genetics. Part A|March 14, 2012
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionStefania Zampatti, Marco Castori, Bjoern Fischer, et al.
Journal of Human Genetics|October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinomaIvan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.
Fetal and Pediatric Pathology|March 4, 2026
Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy FindingsMaria Paola Bonasoni, Giuseppina Comitini, Andrea Musarò, et al.
Cerebellum (London, England)|October 13, 2023
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, et al.
Pageof 16

Showing results (51-60 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|August 6, 2025
Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3: A Case Report and a Brief Review of the LiteratureGiulia Pisanò, Carlo Alberto Cesaroni, Susanna Rizzi, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTSJohannes G Dauwerse, Martine van Belzen, Arie van Haeringen, et al.
Neurogenetics|April 23, 2024
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literatureCarlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
Bioelectromagnetics|July 25, 2012
Maternal exposure to magnetic fields from high-voltage power lines and the risk of birth defectsCarlotta Malagoli, Catherine M Crespi, Rossella Rodolfi, et al.
Orphanet Journal of Rare Diseases|April 17, 2013
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Chiara Dordoni, Marina Venturini, et al.
American Journal of Medical Genetics. Part A|March 14, 2012
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionStefania Zampatti, Marco Castori, Bjoern Fischer, et al.
Journal of Human Genetics|October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinomaIvan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.
Fetal and Pediatric Pathology|March 4, 2026
Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy FindingsMaria Paola Bonasoni, Giuseppina Comitini, Andrea Musarò, et al.
Cerebellum (London, England)|October 13, 2023
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, et al.
Pageof 16