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Chiara Leoni

Showing results (101-110 of 146) with videos related to

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Genes|January 21, 2023
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative ReviewElisabetta Sforza, Gaia Margiotta, Valentina Giorgio, et al.
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Human Molecular Genetics|October 2, 2002
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in micePatrizia D'Adamo, Hans Welzl, Stavros Papadimitriou, et al.
Genes|October 28, 2023
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 SyndromeRoberta Onesimo, Elisabetta Sforza, Valentina Trevisan, et al.
European Journal of Medical Genetics|September 27, 2023
How pain affect real life of children and adults with achondroplasia: A systematic reviewRoberta Onesimo, Elisabetta Sforza, Maria Francesca Bedeschi, et al.
American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, et al.
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
Pageof 15

Showing results (101-110 of 146) with videos related to

Sort By:
Pageof 15
Genes|January 21, 2023
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative ReviewElisabetta Sforza, Gaia Margiotta, Valentina Giorgio, et al.
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Human Molecular Genetics|October 2, 2002
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in micePatrizia D'Adamo, Hans Welzl, Stavros Papadimitriou, et al.
Genes|October 28, 2023
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 SyndromeRoberta Onesimo, Elisabetta Sforza, Valentina Trevisan, et al.
European Journal of Medical Genetics|September 27, 2023
How pain affect real life of children and adults with achondroplasia: A systematic reviewRoberta Onesimo, Elisabetta Sforza, Maria Francesca Bedeschi, et al.
American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 30, 2022
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotypeDaniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, et al.
Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, et al.
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
Pageof 15