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Anna Capalbo

Showing results (21-30 of 30) with videos related to

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European Journal of Medical Genetics|October 1, 2019
Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findingsGioia Mastromoro, Anna Capalbo, Cristiana Alessia Guido, et al.
Genes, Chromosomes & Cancer|July 30, 2008
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOFAngelo Carbone, Laura Bernardini, Francesco Valenzano, et al.
Gene|December 10, 2013
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowthMarina Tarsitano, Carlo Ceglia, Antonio Novelli, et al.
Human Mutation|December 13, 2006
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrumRoberta Marongiu, Francesco Brancati, Angelo Antonini, et al.
Journal of Pediatric Genetics|September 10, 2021
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple AnomaliesPaolo Fontana, Laura Bernardini, Cinzia Lombardi, et al.
Biology|June 2, 2021
Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase XPaola Pontecorvi, Francesca Megiorni, Simona Camero, et al.
Scientific Reports|January 12, 2021
Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndromePaola Pontecorvi, Laura Bernardini, Anna Capalbo, et al.
American Journal of Medical Genetics. Part A|May 6, 2015
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxityVincenzo Salpietro, Martino Ruggieri, Kshitij Mankad, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Prenatal Diagnosis|November 20, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
European Journal of Medical Genetics|October 1, 2019
Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findingsGioia Mastromoro, Anna Capalbo, Cristiana Alessia Guido, et al.
Genes, Chromosomes & Cancer|July 30, 2008
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOFAngelo Carbone, Laura Bernardini, Francesco Valenzano, et al.
Gene|December 10, 2013
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowthMarina Tarsitano, Carlo Ceglia, Antonio Novelli, et al.
Human Mutation|December 13, 2006
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrumRoberta Marongiu, Francesco Brancati, Angelo Antonini, et al.
Journal of Pediatric Genetics|September 10, 2021
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple AnomaliesPaolo Fontana, Laura Bernardini, Cinzia Lombardi, et al.
Biology|June 2, 2021
Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase XPaola Pontecorvi, Francesca Megiorni, Simona Camero, et al.
Scientific Reports|January 12, 2021
Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndromePaola Pontecorvi, Laura Bernardini, Anna Capalbo, et al.
American Journal of Medical Genetics. Part A|May 6, 2015
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxityVincenzo Salpietro, Martino Ruggieri, Kshitij Mankad, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Prenatal Diagnosis|November 20, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, et al.
Pageof 3