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Cristina Peduto

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Cancers|February 25, 2023
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype CorrelationsCristina Peduto, Mariateresa Zanobio, Vincenzo Nigro, et al.
Annales D'Endocrinologie|March 21, 2026
Integrating Genetic Counseling in Endocrine Practice: Prevention, Reproductive Care, and Prenatal DiagnosisBarbara Girerd, Cristina Peduto, Anya Rothenbuhler, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 25, 2025
Familial vitamin K metabolism deficiency responsible for a congenital binder phenotypeKonstantinos Grammatopoulos, Annie Harroche, Cristina Peduto, et al.
European Journal of Medical Genetics|March 16, 2021
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndromeClaudia Santoro, Simona Riccio, Federica Palladino, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.
American Journal of Medical Genetics. Part A|November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from ItalyDaniela Pasquali, Annalaura Torella, Anna Grandone, et al.
American Journal of Medical Genetics. Part A|July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorderGerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Cancers|February 25, 2023
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype CorrelationsCristina Peduto, Mariateresa Zanobio, Vincenzo Nigro, et al.
Annales D'Endocrinologie|March 21, 2026
Integrating Genetic Counseling in Endocrine Practice: Prevention, Reproductive Care, and Prenatal DiagnosisBarbara Girerd, Cristina Peduto, Anya Rothenbuhler, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 25, 2025
Familial vitamin K metabolism deficiency responsible for a congenital binder phenotypeKonstantinos Grammatopoulos, Annie Harroche, Cristina Peduto, et al.
European Journal of Medical Genetics|March 16, 2021
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndromeClaudia Santoro, Simona Riccio, Federica Palladino, et al.
American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.
American Journal of Medical Genetics. Part A|November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from ItalyDaniela Pasquali, Annalaura Torella, Anna Grandone, et al.
American Journal of Medical Genetics. Part A|July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorderGerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait maculesGioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.
Pageof 1