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

Lidia Larizza

Showing results (61-70 of 150) with videos related to

Pageof 15
Sort By:
Molecular Cytogenetics|September 26, 2018
13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literatureIlaria Bestetti, Alessandra Sironi, Ilaria Catusi, et al.
European Journal of Medical Genetics|February 25, 2009
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patientLucia Ballarati, Maria Paola Recalcati, Maria Francesca Bedeschi, et al.
The Journal of Investigative Dermatology|November 25, 2006
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autograftsSergio Bondanza, Melissa Bellini, Gaia Roversi, et al.
European Journal of Medical Genetics|January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotypeCristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Neurogenetics|April 7, 2007
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genesMaria Teresa Bonati, Silvia Russo, Palma Finelli, et al.
BMC Medical Genetics|June 3, 2014
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneMilena Crippa, Ilaria Bestetti, Mario Perotti, et al.
BMC Medical Genetics|February 14, 2007
Functional analysis of splicing mutations in exon 7 of NF1 geneIrene Bottillo, Alessandro De Luca, Annalisa Schirinzi, et al.
Human Genetics|April 23, 2004
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletionsMarco Venturin, Cristina Gervasini, Francesca Orzan, et al.
Frontiers in Genetics|March 28, 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Frontiers in Neurology|August 15, 2020
<i>SETD5</i> Gene Haploinsufficiency in Three Patients With Suspected KBG SyndromeMilena Crippa, Ilaria Bestetti, Silvia Maitz, et al.
Pageof 15

Showing results (61-70 of 150) with videos related to

Sort By:
Pageof 15
Molecular Cytogenetics|September 26, 2018
13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literatureIlaria Bestetti, Alessandra Sironi, Ilaria Catusi, et al.
European Journal of Medical Genetics|February 25, 2009
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patientLucia Ballarati, Maria Paola Recalcati, Maria Francesca Bedeschi, et al.
The Journal of Investigative Dermatology|November 25, 2006
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autograftsSergio Bondanza, Melissa Bellini, Gaia Roversi, et al.
European Journal of Medical Genetics|January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotypeCristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Neurogenetics|April 7, 2007
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genesMaria Teresa Bonati, Silvia Russo, Palma Finelli, et al.
BMC Medical Genetics|June 3, 2014
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneMilena Crippa, Ilaria Bestetti, Mario Perotti, et al.
BMC Medical Genetics|February 14, 2007
Functional analysis of splicing mutations in exon 7 of NF1 geneIrene Bottillo, Alessandro De Luca, Annalisa Schirinzi, et al.
Human Genetics|April 23, 2004
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletionsMarco Venturin, Cristina Gervasini, Francesca Orzan, et al.
Frontiers in Genetics|March 28, 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Frontiers in Neurology|August 15, 2020
<i>SETD5</i> Gene Haploinsufficiency in Three Patients With Suspected KBG SyndromeMilena Crippa, Ilaria Bestetti, Silvia Maitz, et al.
Pageof 15