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Carmelo Piscopo

Showing results (11-20 of 45) with videos related to

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Genes|June 2, 2021
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>Angela Sparago, Flavia Cerrato, Laura Pignata, et al.
Frontiers in Genetics|August 1, 2022
Case Report: A Novel Homozygous Missense Variant of <i>FBN3</i> Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like PhenotypeMaria Luce Genovesi, Barbara Torres, Marina Goldoni, et al.
Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Haematologica|December 18, 2009
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationshipAchille Iolascon, Roberta Russo, Maria Rosaria Esposito, et al.
Pediatric Reports|March 24, 2022
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature ReviewMaria Anna Siano, Ilaria De Maggio, Roberta Petillo, et al.
International Journal of Molecular Sciences|October 26, 2024
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot MutationLorenzo Cipriano, Rosario Ferrigno, Immacolata Andolfo, et al.
Genes|January 21, 2023
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic AnalysisAlessandro De Falco, Daniele De Brasi, Matteo Della Monica, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|February 27, 2023
A New <i>de novo</i> Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic RicketsAlessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, et al.
Haematologica|August 1, 2009
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesisAchille Iolascon, Luigia De Falco, Franck Borgese, et al.
Genes|December 24, 2021
Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation SequencingLuigia De Falco, Carmelo Piscopo, Rossana D'Angelo, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Genes|June 2, 2021
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>Angela Sparago, Flavia Cerrato, Laura Pignata, et al.
Frontiers in Genetics|August 1, 2022
Case Report: A Novel Homozygous Missense Variant of <i>FBN3</i> Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like PhenotypeMaria Luce Genovesi, Barbara Torres, Marina Goldoni, et al.
Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Haematologica|December 18, 2009
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationshipAchille Iolascon, Roberta Russo, Maria Rosaria Esposito, et al.
Pediatric Reports|March 24, 2022
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature ReviewMaria Anna Siano, Ilaria De Maggio, Roberta Petillo, et al.
International Journal of Molecular Sciences|October 26, 2024
Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot MutationLorenzo Cipriano, Rosario Ferrigno, Immacolata Andolfo, et al.
Genes|January 21, 2023
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic AnalysisAlessandro De Falco, Daniele De Brasi, Matteo Della Monica, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|February 27, 2023
A New <i>de novo</i> Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic RicketsAlessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, et al.
Haematologica|August 1, 2009
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesisAchille Iolascon, Luigia De Falco, Franck Borgese, et al.
Genes|December 24, 2021
Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation SequencingLuigia De Falco, Carmelo Piscopo, Rossana D'Angelo, et al.
Pageof 5