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 (61-70 of 156) with videos related to

Pageof 16
Sort By:
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
International Journal of Molecular Sciences|September 30, 2017
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type IFrancesco Bonatti, Alessia Adorni, Annalisa Matichecchia, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutationGiancarlo Gargano, Isotta Guidotti, Eleonora Balestri, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypesIvan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|November 24, 2011
Familial Poland anomaly revisitedAnwar Baban, Michele Torre, Sara Costanzo, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|January 29, 2025
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignetteAgnese Pantani, Susanna Rizzi, Carlotta Spagnoli, et al.
Human Genetics|June 11, 2014
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndromeMariëlle Alders, Lihadh Al-Gazali, Isabelle Cordeiro, et al.
American Journal of Medical Genetics. Part A|August 9, 2018
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Pageof 16

Showing results (61-70 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
International Journal of Molecular Sciences|September 30, 2017
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type IFrancesco Bonatti, Alessia Adorni, Annalisa Matichecchia, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutationGiancarlo Gargano, Isotta Guidotti, Eleonora Balestri, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypesIvan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|November 24, 2011
Familial Poland anomaly revisitedAnwar Baban, Michele Torre, Sara Costanzo, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|January 29, 2025
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignetteAgnese Pantani, Susanna Rizzi, Carlotta Spagnoli, et al.
Human Genetics|June 11, 2014
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndromeMariëlle Alders, Lihadh Al-Gazali, Isabelle Cordeiro, et al.
American Journal of Medical Genetics. Part A|August 9, 2018
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Pageof 16